388 relations: Abetalipoproteinemia, Abscess of thymus, Acatalasia, Aceruloplasminemia, Acid phosphatase, Acid–base homeostasis, Acidosis, Acrodermatitis enteropathica, Acromegaly, Acute (medicine), Acute intermittent porphyria, Addison's disease, Adipose tissue, Adiposogenital dystrophy, Adrenal cortex, Adrenal crisis, Adrenal gland, Adrenal insufficiency, Adrenal medulla, Adrenoleukodystrophy, Albinism, Alcohol, Alkalosis, Alkaptonuria, Alpha 1-antitrypsin deficiency, Amino acid, Amyloidosis, Androgen, Androgen insensitivity syndrome, Argininosuccinic aciduria, Aromatic amino acid, Arthropathy, Aspartylglucosaminuria, Asymptomatic, Atrophy, Autoimmune polyendocrine syndrome type 2, Autoimmunity, B vitamins, Bartter syndrome, Batten disease, Bilirubin, Bitot's spots, Blood proteins, Branched-chain amino acid, Cachexia, Carbohydrate metabolism, Carcinoid syndrome, Catalase, Centers for Medicare and Medicaid Services, Cerebrotendineous xanthomatosis, ..., Chédiak–Higashi syndrome, Chemical decomposition, Chromium deficiency, Chronic condition, Citrullinemia, Coma, Combined hyperlipidemia, Congenital adrenal hyperplasia, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Congenital hypothyroidism, Congenital iodine deficiency syndrome, Conjunctiva, Copper, Cornea, Corneal ulcer, Crigler–Najjar syndrome, Cross syndrome, Cushing's syndrome, Cystathioninuria, Cystic fibrosis, Cystinosis, Cystinuria, De Quervain's thyroiditis, Dehydration, Delayed puberty, Diabetes insipidus, Diabetes mellitus, Diabetes mellitus type 1, Diabetes mellitus type 2, Diabetic angiopathy, Diabetic coma, Diabetic ketoacidosis, Diabetic nephropathy, Diabetic neuropathy, Diabetic retinopathy, Diagnosis, Disorders of calcium metabolism, Drug, Dubin–Johnson syndrome, Electrolyte, Electrolyte imbalance, Endemic goitre, Endocrine disease, Endocrine gland, Endocrine system, Endogeny (biology), Erythropoietic porphyria, Erythropoietic protoporphyria, Essential fatty acid, Essential fructosuria, Estrogen, Euthyroid sick syndrome, Exogeny, Fabry disease, Failure, Familial amyloid neuropathy, Familial hypercholesterolemia, Familial Mediterranean fever, Familial renal amyloidosis, Family, Farber disease, Fat pad, Fatty acid metabolism, Fertile eunuch syndrome, Fluid, Fructose, Fructose bisphosphatase deficiency, Fucosidosis, Galactokinase deficiency, Galactose, Galactosemia, Gangliosidosis, Gastrin, Gaucher's disease, Genetic disorder, Gigantism, Gilbert's syndrome, Gland, Glucagon, Gluconeogenesis, Glucose-galactose malabsorption, Glutaric aciduria type 1, Glycine, Glycine encephalopathy, Glycogen storage disease, Glycogen storage disease type I, Glycogen storage disease type II, Glycogen storage disease type III, Glycogen storage disease type IV, Glycogen storage disease type V, Glycoprotein, Glycosaminoglycan, GM 2 gangliosidosis, GM1 gangliosidoses, Goitre, Gonadotropin, Graves' disease, Growth hormone, Growth hormone deficiency, Gunther disease, Haemodialysis-associated amyloidosis, Hartnup disease, Hashimoto's thyroiditis, Hepatic porphyria, Hepatoerythropoietic porphyria, Hereditary coproporphyria, Hereditary fructose intolerance, Heredofamilial amyloidosis, Hermansky–Pudlak syndrome, Histidine, Homocystinuria, Hormone, Human iron metabolism, Hunter syndrome, Hurler syndrome, Hydroxylysine, Hyperaldosteronism, Hyperammonemia, Hypercalcaemia, Hypercalciuria, Hyperchloremia, Hypercholesterolemia, Hyperinsulinism, Hyperkalemia, Hyperlipidemia, Hypermagnesemia, Hypernatremia, Hyperoxaluria, Hyperparathyroidism, Hyperprolactinaemia, Hyperthyroidism, Hypertriglyceridemia, Hyperuricemia, Hypervitaminosis A, Hypervitaminosis D, Hypervolemia, Hypoaldosteronism, Hypoalphalipoproteinemia, Hypobetalipoproteinemia, Hypocalcaemia, Hypochloremia, Hypoglycemia, Hypogonadism, Hypogonadotropic hypogonadism, Hypokalemia, Hypomagnesemia, Hyponatremia, Hypoparathyroidism, Hypophosphatasia, Hypophosphatemia, Hypopituitarism, Hypothalamic–pituitary hormone, Hypothyroidism, Hypovolemia, I-cell disease, ICD-10, Idiopathic disease, Inborn error of lipid metabolism, Inborn errors of metabolism, Inflammatory arthritis, Intellectual disability, International Statistical Classification of Diseases and Related Health Problems, Iodine deficiency, Iron deficiency, Iron overload, Isovaleric acidemia, Jansky–Bielschowsky disease, Kallmann syndrome, Keratomalacia, Kufs disease, Kwashiorkor, Lactic acidosis, Lactose intolerance, Laron syndrome, Lecithin cholesterol acyltransferase deficiency, Lesch–Nyhan syndrome, Lipid storage disorder, Lipodystrophy, Lipomatosis, Lipoprotein, List of ICD-9 codes 240–279: endocrine, nutritional and metabolic diseases, and immunity disorders, Low-density lipoprotein, Lysine, Lysinuric protein intolerance, Lysosomal acid lipase deficiency, Lysosome, Magnesium, Magnesium deficiency (medicine), Malnutrition, Manganese deficiency (medicine), Mannosidosis, Maple syrup urine disease, Marasmus, Medication, Menkes disease, Metabolic acidosis, Metabolic disorder, Metabolism, Methylmalonic acidemia, Mineral, Molybdenum deficiency, Morquio syndrome, Mucolipidosis type IV, Mucopolysaccharidosis, Myxedema coma, Necrosis, Nelson's syndrome, Neuronal ceroid lipofuscinosis, Niacin, Niemann–Pick disease, Nutrient, Nutrition, Nyctalopia, Obesity, Obesity hypoventilation syndrome, Ochronosis, Oculocerebrorenal syndrome, Oculocutaneous albinism, Organ-limited amyloidosis, Ornithinaemia, Ornithine, Osteomalacia, Ovary, Overnutrition, Parathyroid gland, Partial androgen insensitivity syndrome, Pellagra, Pentosuria, Peripheral neuropathy, Peroxidase, Phenylketonuria, Phosphoenolpyruvate carboxykinase, Phosphorus, Piebaldism, Pituitary gland, Plasma osmolality, Polycystic ovary syndrome, Porphyria, Porphyria cutanea tarda, Porphyrin, Post-translational modification, Postpartum period, Precocious puberty, Premature ovarian failure, Primary aldosteronism, Primary hyperoxaluria, Primary hyperparathyroidism, Progeria, Propionic acidemia, Protein metabolism, Protein–energy malnutrition, Pseudo-Cushing's syndrome, Pseudo-Hurler polydystrophy, Pseudohermaphroditism, Pseudohypoparathyroidism, Pseudoporphyria, Psychosocial short stature, Puberty, Purine, Pyridoxine, Pyrimidine, Pyruvate carboxylase deficiency, Pyruvate dehydrogenase deficiency, Pyruvic acid, Raoul Bensaude, Renal glycosuria, Renal physiology, Respiratory acidosis, Riboflavin, Rickets, Riedel's thyroiditis, Rotor syndrome, Sandhoff disease, Sanfilippo syndrome, Sarcosinemia, Scurvy, Secondary hyperparathyroidism, Secondary systemic amyloidosis, Secretion, Selenium deficiency, Sequela, Sheehan's syndrome, Short stature, Sialidosis, Small-cell carcinoma, Sphingolipid, Sphingolipidoses, Sucrose intolerance, Sulfite oxidase, Sulfur, Syndrome of inappropriate antidiuretic hormone secretion, Systemic primary carnitine deficiency, Takahara, Tangier disease, Tay–Sachs disease, Testicle, The International League of Dermatological Societies, Thelarche, Thiamine, Thiamine deficiency, Thymus, Thymus hyperplasia, Thyroid, Thyroid dysgenesis, Thyroid dyshormonogenesis, Thyroiditis, Thyrotoxicosis factitia, Tietz syndrome, Tophus, Toxic multinodular goitre, Transport, Trimethylaminuria, Tryptophan, Tyrosinase, Tyrosine, Tyrosinemia, Urea cycle, Variegate porphyria, Very low-density lipoprotein, Vitamin, Vitamin A, Vitamin C, Vitamin D, Vitamin D deficiency, Vitamin E, Vitamin K, Waardenburg syndrome, Wernicke encephalopathy, Wilson's disease, World Health Organization, Xanthinuria, Xanthoma, Xeroderma, Xerophthalmia, Zinc, Zinc deficiency, Zollinger–Ellison syndrome, 5α-Reductase deficiency. 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Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.
An abscess of the thymus (also known as "Dubois' abscesses") is a condition that is one of many possible causes of cysts in the mediastinum.
Acatalasia (also called acatalasemia, or Takahara's disease) is an autosomal recessive peroxisomal disorder caused by low levels of the enzyme catalase.
Aceruloplasminemia is a rare autosomal recessive disorder in which iron gradually accumulates in the retina, basal ganglia, and other organs.
Acid phosphatase (acid phosphomonoesterase, phosphomonoesterase, glycerophosphatase, acid monophosphatase, acid phosphohydrolase, acid phosphomonoester hydrolase, uteroferrin, acid nucleoside diphosphate phosphatase, orthophosphoric-monoester phosphohydrolase (acid optimum)) is a phosphatase, a type of enzyme, used to free attached phosphoryl groups from other molecules during digestion.
Acid–base homeostasis is the homeostatic regulation of the pH of the body's extracellular fluid (ECF).
Acidosis is a process causing increased acidity in the blood and other body tissues (i.e., an increased hydrogen ion concentration).
Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane.
Acromegaly is a disorder that results from excess growth hormone (GH) after the growth plates have closed.
In medicine, describing a disease as acute denotes that it is of short duration and, as a corollary of that, of recent onset.
Acute intermittent porphyria (AIP) is a genetic metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin.
Addison's disease, also known as primary adrenal insufficiency and hypocortisolism, is a long-term endocrine disorder in which the adrenal glands do not produce enough steroid hormones.
In biology, adipose tissue, body fat, or simply fat is a loose connective tissue composed mostly of adipocytes.
Adiposogenital dystrophy is a condition which may be caused by tertiary hypogonadism originating from decreased levels in GnRH.
Situated along the perimeter of the adrenal gland, the adrenal cortex mediates the stress response through the production of mineralocorticoids and glucocorticoids, such as aldosterone and cortisol, respectively.
Adrenal crisis (also known as Addisonian crisis and acute adrenal insufficiency) is a medical emergency and potentially life-threatening situation requiring immediate emergency treatment.
The adrenal glands (also known as suprarenal glands) are endocrine glands that produce a variety of hormones including adrenaline and the steroids aldosterone and cortisol.
Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of steroid hormones, primarily cortisol; but may also include impaired production of aldosterone (a mineralocorticoid), which regulates sodium conservation, potassium secretion, and water retention.
The adrenal medulla (medulla glandulae suprarenalis) is part of the adrenal gland.
Adrenoleukodystrophy is a disease linked to the X chromosome.
Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes.
In chemistry, an alcohol is any organic compound in which the hydroxyl functional group (–OH) is bound to a carbon.
Alkalosis is the result of a process reducing hydrogen ion concentration of arterial blood plasma (alkalemia).
Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein.
Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease.
Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.
Amyloidosis is a group of diseases in which abnormal protein, known as amyloid fibrils, builds up in tissue.
An androgen (from Greek andr-, the stem of the word meaning "man") is any natural or synthetic steroid hormone which regulates the development and maintenance of male characteristics in vertebrates by binding to androgen receptors.
Androgen insensitivity syndrome (AIS) is an intersex condition in which there is a partial or complete inability of many cells in the affected genetic male to respond to androgenic hormones.
Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine.
An aromatic amino acid (AAA) is an amino acid that includes an aromatic ring.
An arthropathy is a disease of a joint.
Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues.
In medicine, a disease is considered asymptomatic if a patient is a carrier for a disease or infection but experiences no symptoms.
Atrophy is the partial or complete wasting away of a part of the body.
Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as Schmidt's syndrome, or APS-II, is the most common form of the polyglandular failure syndromes.
Autoimmunity is the system of immune responses of an organism against its own healthy cells and tissues.
B vitamins are a class of water-soluble vitamins that play important roles in cell metabolism.
Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle.
Batten disease is a fatal disease of the nervous system that typically begins in childhood.
Bilirubin is a yellow compound that occurs in the normal catabolic pathway that breaks down heme in vertebrates.
Bitot's spots are the buildup of keratin located superficially in the conjunctiva, which are oval, triangular or irregular in shape.
Blood proteins, also termed plasma proteins, are proteins present in blood plasma.
A branched-chain amino acid (BCAA) is an amino acid having aliphatic side-chains with a branch (a central carbon atom bound to three or more carbon atoms).
Cachexia, or wasting syndrome, is loss of weight, muscle atrophy, fatigue, weakness and significant loss of appetite in someone who is not actively trying to lose weight.
Carbohydrate metabolism denotes the various biochemical processes responsible for the formation, breakdown, and interconversion of carbohydrates in living organisms.
Carcinoid syndrome is a paraneoplastic syndrome comprising the signs and symptoms that occur secondary to carcinoid tumors.
Catalase is a common enzyme found in nearly all living organisms exposed to oxygen (such as bacteria, plants, and animals).
The Centers for Medicare & Medicaid Services (CMS), previously known as the Health Care Financing Administration (HCFA), is a federal agency within the United States Department of Health and Human Services (HHS) that administers the Medicare program and works in partnership with state governments to administer Medicaid, the Children's Health Insurance Program (CHIP), and health insurance portability standards.
Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis.
Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis.
Chemical decomposition, analysis or breakdown is the separation of a single chemical compound into its two or more elemental parts or to simpler compounds.
Chromium deficiency is described as the consequence of an insufficient dietary intake of the mineral chromium.
A chronic condition is a human health condition or disease that is persistent or otherwise long-lasting in its effects or a disease that comes with time.
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.
Coma is a state of unconsciousness in which a person cannot be awaken; fails to respond normally to painful stimuli, light, or sound; lacks a normal wake-sleep cycle; and does not initiate voluntary actions.
Combined hyperlipidemia (or -aemia) (also known as multiple-type hyperlipoproteinemia) is a commonly occurring form of hypercholesterolemia (elevated cholesterol levels) characterised by increased LDL and triglyceride concentrations, often accompanied by decreased HDL.
Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia, and "CAH" in most contexts refers to 21-hydroxylase deficiency.
Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.
Congenital iodine deficiency syndrome, previously known as Cretinism, is a condition of severely stunted physical and mental growth owing to untreated congenital deficiency of thyroid hormone (congenital hypothyroidism) usually owing to maternal hypothyroidism.
The conjunctiva lines the inside of the eyelids and covers the sclera (the white of the eye).
Copper is a chemical element with symbol Cu (from cuprum) and atomic number 29.
The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber.
Corneal ulcer, or ulcerative keratitis, is an inflammatory or more seriously, infective condition of the cornea involving disruption of its epithelial layer with involvement of the corneal stroma.
Crigler–Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells.
Cross–McKusick–Breen syndrome (also known as "Cross syndrome", "hypopigmentation and microphthalmia", and "oculocerebral-hypopigmentation syndrome") is an extremely rare disorder characterized by white skin, blond hair with yellow-gray metallic sheen, small eyes with cloudy corneas, jerky nystagmus, gingival fibromatosis and severe intellectual disability and physical retardation.
Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to cortisol.
Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder that results in an excess of cystathionine in the urine.
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.
Cystinuria is an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cysteine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder.
De Quervain's thyroiditis', also known as subacute granulomatous thyroiditis or giant cell thyroiditis', is a member of the group of thyroiditis conditions known as resolving thyroiditis.
In physiology, dehydration is a deficit of total body water, with an accompanying disruption of metabolic processes.
Delayed puberty is described as delayed puberty with exceptions when an organism has passed the usual age of onset of puberty with no physical or hormonal signs that it is beginning.
Diabetes insipidus (DI) is a condition characterized by large amounts of dilute urine and increased thirst.
Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period.
Diabetes mellitus type 1, also known as type 1 diabetes, is a form of diabetes mellitus in which not enough insulin is produced.
Diabetes mellitus type 2 (also known as type 2 diabetes) is a long-term metabolic disorder that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
Diabetic angiopathy is a form of angiopathy associated with diabetic complications.
Diabetic coma is a reversible form of coma found in people with diabetes mellitus.
Diabetic ketoacidosis (DKA) is a potentially life-threatening complication of diabetes mellitus.
Diabetic nephropathy (DN), also known as diabetic kidney disease, is the chronic loss of kidney function occurring in those with diabetes mellitus.
Diabetic neuropathies are nerve damaging disorders associated with diabetes mellitus.
Diabetic retinopathy, also known as diabetic eye disease, is a medical condition in which damage occurs to the retina due to diabetes mellitus.
Diagnosis is the identification of the nature and cause of a certain phenomenon.
Disorders of calcium metabolism occur when the body has too little or too much calcium.
A drug is any substance (other than food that provides nutritional support) that, when inhaled, injected, smoked, consumed, absorbed via a patch on the skin, or dissolved under the tongue causes a temporary physiological (and often psychological) change in the body.
Dubin–Johnson syndrome (DJS) is a rare, autosomal recessive, benign disorder that causes an isolated increase of conjugated bilirubin in the serum.
An electrolyte is a substance that produces an electrically conducting solution when dissolved in a polar solvent, such as water.
Electrolyte imbalance is an abnormality in the concentration of electrolytes in the body.
Endemic goiter is a type of goitre that is associated with dietary iodine deficiency.
Endocrine diseases are disorders of the endocrine system.
Endocrine glands are glands of the endocrine system that secrete their products, hormones, directly into the blood rather than through a duct.
The endocrine system is a chemical messenger system consisting of hormones, the group of glands of an organism that carry those hormones directly into the circulatory system to be carried towards distant target organs, and the feedback loops of homeostasis that the hormones drive.
Endogenous substances and processes are those that originate from within an organism, tissue, or cell.
Erythropoietic porphyria is a type of porphyria associated with erythropoietic cells.
Erythropoietic protoporphyria (EPP) is a form of porphyria, which varies in severity and can be very painful.
Essential fatty acids, or EFAs, are fatty acids that humans and other animals must ingest because the body requires them for good health but cannot synthesize them.
Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its excretion in urine.
Estrogen, or oestrogen, is the primary female sex hormone.
Euthyroid sick syndrome (ESS), sick euthyroid syndrome (SES), thyroid allostasis in critical illness, tumours, uremia and starvation (TACITUS), non-thyroidal illness syndrome (NTIS) or low T3 low T4 syndrome is a state of adaptation or dysregulation of thyrotropic feedback control wherein the levels of T3 and/or T4 are abnormal, but the thyroid gland does not appear to be dysfunctional.
In a variety of contexts, exogeny or exogeneity is the fact of an action or object originating externally.
Fabry disease is a rare genetic disease.
Failure is the state or condition of not meeting a desirable or intended objective, and may be viewed as the opposite of success.
The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant diseases wherein the autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation.
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease.
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder.
Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a form of amyloidosis primarily presenting in the kidney.
Every person has his/her own family.mother reproduces with husband for children.In the context of human society, a family (from familia) is a group of people related either by consanguinity (by recognized birth), affinity (by marriage or other relationship), or co-residence (as implied by the etymology of the English word "family" from Latin familia 'family servants, domestics collectively, the servants in a household,' thus also 'members of a household, the estate, property; the household, including relatives and servants,' abstract noun formed from famulus 'servant, slave ') or some combination of these.
Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare (80 cases reported worldwide to this day) autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system.
A fat pad (aka haversian gland) is a mass of closely packed fat cells surrounded by fibrous tissue septa.
Fatty acid metabolism consists of catabolic processes that generate energy, and anabolic processes that create biologically important molecules (triglycerides, phospholipids, second messengers, local hormones and ketone bodies).
The fertile eunuch syndrome or Pasqualini syndrome is a cause of hypogonadotropic hypogonadism caused by a luteinizing hormone deficiency.
In physics, a fluid is a substance that continually deforms (flows) under an applied shear stress.
Fructose, or fruit sugar, is a simple ketonic monosaccharide found in many plants, where it is often bonded to glucose to form the disaccharide sucrose.
In fructose bisphosphatase deficiency, there is not enough fructose bisphosphatase for gluconeogenesis to occur correctly.
Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme.
Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
Galactose (galacto- + -ose, "milk sugar"), sometimes abbreviated Gal, is a monosaccharide sugar that is about as sweet as glucose, and about 30% as sweet as sucrose.
Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly.
Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides.
Gastrin is a peptide hormone that stimulates secretion of gastric acid (HCl) by the parietal cells of the stomach and aids in gastric motility.
Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs.
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
Gigantism, also known as giantism (from Greek γίγας gigas, "giant", plural γίγαντες gigantes), is a condition characterized by excessive growth and height significantly above average.
Gilbert's syndrome (GS) is a mild liver disorder in which the liver does not properly process bilirubin.
A gland is a group of cells in an animal's body that synthesizes substances (such as hormones) for release into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland).
Glucagon is a peptide hormone, produced by alpha cells of the pancreas.
Gluconeogenesis (GNG) is a metabolic pathway that results in the generation of glucose from certain non-carbohydrate carbon substrates.
Glucose-galactose malabsorption is a rare condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them.
Glutaric acidemia type 1 (or "glutaric aciduria", "GA1", or "GAT1") is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan.
Glycine (symbol Gly or G) is the amino acid that has a single hydrogen atom as its side chain.
Glycine encephalopathy (also known as non-ketotic hyperglycinemia or NKH) is a rare autosomal recessive disorder of glycine metabolism.
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), typically within muscles and/or liver cells.
Glycogen storage disease type I (GSD I) or von Gierke disease, is the most common of the glycogen storage diseases.
Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body.
Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates) characterized by a deficiency in glycogen debranching enzymes.
Glycogen storage disease type IV, also known as Andersen’s Disease, is a form of glycogen storage disease, which is caused by an inborn error of metabolism.
Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase.
Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to amino acid side-chains.
Glycosaminoglycans (GAGs) or mucopolysaccharides are long unbranched polysaccharides consisting of a repeating disaccharide unit.
GM 2 gangliosidosis refers to several similar genetic disorders.
The GM1 gangliosidoses (or GM1 gangliosidosis) are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells.
A goitre or goiter is a swelling in the neck resulting from an enlarged thyroid gland.
Gonadotropins are glycoprotein polypeptide hormones secreted by gonadotrope cells of the anterior pituitary of vertebrates.
Graves' disease, also known as toxic diffuse goiter, is an autoimmune disease that affects the thyroid.
Growth hormone (GH), also known as somatotropin (or as human growth hormone in its human form), is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals.
Growth hormone deficiency (GHD) is a medical condition due to not enough growth hormone (GH).
Gunther disease, also known as congenital erythropoietic porphyria (CEP), uroporphyrinogen III synthase deficiency and UROS deficiency, is a congenital form of erythropoietic porphyria.
Haemodialysis-associated amyloidosis is a form of systemic amyloidosis associated with chronic kidney failure.
Hartnup disease (also known as "pellagra-like dermatosis" and "Hartnup disorder") is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin).
Hashimoto's thyroiditis, also known as chronic lymphocytic thyroiditis and Hashimoto's disease, is an autoimmune disease in which the thyroid gland is gradually destroyed.
Hepatic porphyrias is a form of porphyria in which the enzyme deficiency occurs in the liver.
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).
Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria.
Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B. Individuals affected with HFI are asymptomatic until they ingest fructose, sucrose, or sorbitol.
Heredofamilial amyloidosis is an inherited condition that may be characterized by systemic or localized deposition of amyloid in body tissues.
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
Histidine (symbol His or H) is an α-amino acid that is used in the biosynthesis of proteins.
Classical homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase.
A hormone (from the Greek participle “ὁρμῶ”, "to set in motion, urge on") is any member of a class of signaling molecules produced by glands in multicellular organisms that are transported by the circulatory system to target distant organs to regulate physiology and behaviour.
Human iron metabolism is the set of chemical reactions that maintain human homeostasis of iron at the systemic and cellular level.
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a lysosomal storage disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Hurler syndrome is also known as mucopolysaccharidosis type IH (MPS IH), Hurler's disease, and formerly gargoylism.
Hydroxylysine (Hyl) is an amino acid with the molecular formula C6H14N2O3.
Hyperaldosteronism, also aldosteronism, is a medical condition wherein too much aldosterone is produced by the adrenal glands, which can lead to lowered levels of potassium in the blood (hypokalemia) and increased hydrogen ion excretion (alkalosis).
Hyperammonemia (or hyperammonaemia) is a metabolic disturbance characterised by an excess of ammonia in the blood.
Hypercalcaemia, also spelled hypercalcemia, is a high calcium (Ca2+) level in the blood serum.
Hypercalciuria or hypercalcinuria is the condition of elevated calcium in the urine.
Hyperchloremia is an electrolyte disturbance in which there is an elevated level of the chloride ions in the blood.
Hypercholesterolemia, also called high cholesterol, is the presence of high levels of cholesterol in the blood.
Hyperinsulinism refers to an above normal level of insulin in the blood of a person or animal.
Hyperkalemia, also spelled hyperkalaemia, is an elevated level of potassium (K+) in the blood serum.
Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood.
Hypermagnesemia is an electrolyte disturbance in which there is a high level of magnesium in the blood.
Hypernatremia, also spelled hypernatraemia, is a high concentration of sodium in the blood.
Hyperoxaluria is an excessive urinary excretion of oxalate.
Hyperparathyroidism is an increased parathyroid hormone (PTH) levels in the blood.
Hyperprolactinemia or hyperprolactinaemia is the presence of abnormally high levels of prolactin in the blood.
Hyperthyroidism is the condition that occurs due to excessive production of thyroid hormone by the thyroid gland.
Hypertriglyceridemia denotes high (hyper-) blood levels (-emia) of triglycerides, the most abundant fatty molecule in most organisms.
Hyperuricemia is an abnormally high level of uric acid in the blood.
Hypervitaminosis A refers to the toxic effects of ingesting too much preformed vitamin A. Symptoms arise as a result of altered bone metabolism and altered metabolism of other fat-soluble vitamins.
Hypervitaminosis D is a state of vitamin D toxicity.
Hypervolemia, or fluid overload, is the medical condition where there is too much fluid in the blood.
Hypoaldosteronism is an endocrinological disorder characterized decreased levels of the hormone aldosterone.
Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner.
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile.
Hypocalcaemia, also spelled hypocalcemia, is low calcium levels in the blood serum.
Hypochloremia (or Hypochloraemia) is an electrolyte disturbance in which there is an abnormally low level of the chloride ion in the blood.
Hypoglycemia, also known as low blood sugar, is when blood sugar decreases to below normal levels.
Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries —that may result in diminished sex hormone biosynthesis.
Hypogonadotropic Hypogonadism (HH), or secondary hypogonadism is due to problems with either the hypothalamus or pituitary gland affecting the hypothalamic-pituitary-gonadal axis (HPG axis).
Hypokalemia, also spelled hypokalaemia, is a low level of potassium (K+) in the blood serum.
Hypomagnesemia, also spelled hypomagnesaemia, is an electrolyte disturbance in which there is a low level of magnesium in the blood.
Hyponatremia is a low sodium level in the blood.
Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone.
Hypophosphatasia (also called deficiency of alkaline phosphatase or phosphoethanolaminuria) is a rare, and sometimes fatal, metabolic bone disease.
Hypophosphatemia is an electrolyte disturbance in which there is an abnormally low level of phosphate in the blood.
Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.
Hypothalamic–pituitary hormones are hormones that are produced by the hypothalamus and pituitary gland.
Hypothyroidism, also called underactive thyroid or low thyroid, is a disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone.
Hypovolemia is a state of decreased blood volume; more specifically, decrease in volume of blood plasma.
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus).
ICD-10 is the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD), a medical classification list by the World Health Organization (WHO).
An idiopathic disease is any disease with an unknown cause or mechanism of apparently spontaneous origin.
Numerous genetic disorders are caused by errors in fatty acid metabolism.
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.
Inflammatory arthritis is a group of diseases which includes: rheumatoid arthritis, psoriatic arthropathy, inflammatory bowel disease, adult-onset Still's disease, scleroderma, juvenile idiopathic arthritis and systemic lupus erythematosus (SLE).
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
The International Classification of Diseases (ICD) is the international "standard diagnostic tool for epidemiology, health management and clinical purposes." Its full official name is International Statistical Classification of Diseases and Related Health Problems. The ICD is maintained by the World Health Organization (WHO), the directing and coordinating authority for health within the United Nations System.
Iodine deficiency is a lack of the trace element iodine, an essential nutrient in the diet.
Iron deficiency, or sideropaenia, is the state in which a body has not enough (or not qualitatively enough) iron to supply its eventual needs.
Iron overload (variously known as haemochromatosis, hemochromatosis, hemochromocytosis, Celtic curse, Irish illness, British gene, Scottish sickness and bronzing diabetes) indicates accumulation of iron in the body from any cause.
Isovaleric acidemia is a rare autosomal recessive metabolic disorder which disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
Jansky–Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis (NCL) family of neurodegenerative disorders.
Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty.
Keratomalacia is an eye disorder that results from vitamin A deficiency.
Kufs disease is one of many diseases categorized under a disorder known as neuronal ceroid lipofuscinosis (NCLs).
Kwashiorkor is a form of severe protein malnutrition characterized by edema, and an enlarged liver with fatty infiltrates.
Lactic acidosis is a medical condition characterized by the buildup of lactate (especially L-lactate) in the body, which results in an excessively low pH in the bloodstream.
Lactose intolerance is a condition in which people have symptoms due to the decreased ability to digest lactose, a sugar found in dairy products.
Laron's syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an insensitivity to growth hormone (GH), usually caused by a mutant growth hormone receptor.
Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein metabolism.
Lesch–Nyhan syndrome (LNS), also known as juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene located on the X chromosome.
A lipid storage disorder (or lipidosis) can be any one of a group of inherited metabolic disorders in which harmful amounts of fats or lipids accumulate in some of the body’s cells and tissues.
Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue.
Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on the body.
A lipoprotein is a biochemical assembly whose purpose is to transport hydrophobic lipid (a.k.a. fat) molecules in water, as in blood or extracellular fluid.
Low-density lipoprotein (LDL) is one of the five major groups of lipoprotein which transport all fat molecules around the body in the extracellular water.
Lysine (symbol Lys or K) is an α-amino acid that is used in the biosynthesis of proteins.
Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic aminoaciduria or familial protein intolerance, is an autosomal recessive metabolic disorder affecting amino acid transport.
Lysosomal acid lipase deficiency (LAL deficiency or LAL-D), also known as Wolman disease, is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme.
A lysosome is a membrane-bound organelle found in nearly all animal cells.
Magnesium is a chemical element with symbol Mg and atomic number 12.
Magnesium deficiency or hypomagnesia (not to be confused with hypomagnesemia) refers to inadequate intake of dietary magnesium or impaired absorption of magnesium, which can result in numerous symptoms and diseases.
Malnutrition is a condition that results from eating a diet in which one or more nutrients are either not enough or are too much such that the diet causes health problems.
Manganese deficiency in humans results in a number of medical problems.
Mannosidosis is a deficiency in mannosidase, an enzyme.
Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids.
Marasmus is a form of severe malnutrition characterized by energy deficiency.
A medication (also referred to as medicine, pharmaceutical drug, or simply drug) is a drug used to diagnose, cure, treat, or prevent disease.
Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency.
Metabolic acidosis is a condition that occurs when the body produces excessive quantities of acid or when the kidneys are not removing enough acid from the body.
A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process.
Metabolism (from μεταβολή metabolē, "change") is the set of life-sustaining chemical transformations within the cells of organisms.
Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessive metabolic disorder.
A mineral is a naturally occurring chemical compound, usually of crystalline form and not produced by life processes.
Molybdenum deficiency refers to the clinical consequences of inadequate supplies of molybdenum in the diet.
Morquio syndrome (referred to as mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or Morquio) is a rare metabolic disorder in which the body cannot process certain types of mucopolysaccharides (long chains of sugar molecules), which the body uses as lubricants and shock absorbers.
Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosomal recessive lysosomal storage disorder.
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans.
Myxedema coma is a state of decompensated hypothyroidism.
Necrosis (from the Greek νέκρωσις "death, the stage of dying, the act of killing" from νεκρός "dead") is a form of cell injury which results in the premature death of cells in living tissue by autolysis.
Nelson's syndrome is a rare disorder and occurs in patients who have had both adrenal glands removed owing to Cushing's disease.
Neuronal ceroid lipofuscinosis (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues.
Niacin, also known as nicotinic acid, is an organic compound and a form of vitamin B3, an essential human nutrient.
Niemann–Pick disease is a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells.
A nutrient is a substance used by an organism to survive, grow, and reproduce.
Nutrition is the science that interprets the interaction of nutrients and other substances in food in relation to maintenance, growth, reproduction, health and disease of an organism.
Nyctalopia, also called night-blindness, is a condition making it difficult or impossible to see in relatively low light.
Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have a negative effect on health.
Obesity hypoventilation syndrome (also known as Pickwickian syndrome) is a condition in which severely overweight people fail to breathe rapidly enough or deeply enough, resulting in low blood oxygen levels and high blood carbon dioxide (CO2) levels.
Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues.
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria, and low-molecular-weight proteinuria.
Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and according to some definitions, the hair.
Organ-limited amyloidosis is a category of amyloidosis where the distribution can be associated primarily with a single organ.
Ornithinaemia is a blood disorder characterized by high levels of ornithine.
Ornithine is a non-proteinogenic amino acid that plays a role in the urea cycle.
Osteomalacia is the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate, calcium, and vitamin D, or because of resorption of calcium.
The ovary is an organ found in the female reproductive system that produces an ovum.
Overnutrition or hyperalimentation is a form of malnutrition in which the intake of nutrients is oversupplied.
Parathyroid glands are small endocrine glands in the neck of humans and other tetrapods that produce parathyroid hormone.
Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the cell to respond to androgens.
Pellagra is a disease caused by a lack of the vitamin niacin (vitamin B3).
Pentosuria is a condition where the sugar xylitol, a pentose, presents in the urine in unusually high concentrations.
Peripheral neuropathy (PN) is damage to or disease affecting nerves, which may impair sensation, movement, gland or organ function, or other aspects of health, depending on the type of nerve affected.
Peroxidases (EC number) are a large family of enzymes that typically catalyze a reaction of the form: For many of these enzymes the optimal substrate is hydrogen peroxide, but others are more active with organic hydroperoxides such as lipid peroxides.
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.
Phosphoenolpyruvate carboxykinase (PEPCK) is an enzyme in the lyase family used in the metabolic pathway of gluconeogenesis.
Phosphorus is a chemical element with symbol P and atomic number 15.
Piebaldism is a rare autosomal dominant disorder of melanocyte development.
An explanation of the development of the pituitary gland (Hypophysis cerebri) & the congenital anomalies. In vertebrate anatomy, the pituitary gland, or hypophysis, is an endocrine gland about the size of a pea and weighing in humans.
Plasma osmolality measures the body's electrolyte-water balance.
Polycystic ovary syndrome (PCOS) is a set of symptoms due to elevated androgens (male hormones) in females.
Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system.
Porphyria cutanea tarda (PCT) is the most common subtype of porphyria.
Porphyrins (/phɔɹfɚɪn/ ''POUR-fer-in'') are a group of heterocyclic macrocycle organic compounds, composed of four modified pyrrole subunits interconnected at their α carbon atoms via methine bridges (.
Post-translational modification (PTM) refers to the covalent and generally enzymatic modification of proteins following protein biosynthesis.
A postpartum (or postnatal) period begins immediately after the birth of a child as the mother's body, including hormone levels and uterus size, returns to a non-pregnant state.
In medicine, precocious puberty is puberty occurring at an unusually early age.
Premature ovarian failure (POF) is the loss of function of the ovaries before age 40.
Primary aldosteronism, also known as primary hyperaldosteronism or Conn's syndrome, refers to the excess production of the hormone aldosterone from the adrenal glands, resulting in low renin levels.
Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of oxalate (up to 600mg a day from normal 50mg a day), with oxalate stones being common.
Primary hyperparathyroidism is usually caused by a tumor within the parathyroid gland.
Progeria is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age.
Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency, and ketotic glycinemia, is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.
Protein metabolism denotes the various biochemical processes responsible for the synthesis of proteins and amino acids, and the breakdown of proteins (and other large molecules) by catabolism.
Protein–energy malnutrition (PEM) refers to a form of malnutrition which is defined as a range of pathological conditions arising from coincident lack of protein and/or energy in varying proportions.The condition vary in forms ranging from mild through moderate to severe degrees.
Pseudo-Cushing's syndrome is a medical condition in which patients display the signs, symptoms, and abnormal hormone levels seen in Cushing's syndrome.
Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is a lysosomal storage disease closely related to I-cell disease (ML II).
Pseudohermaphroditism, or pseudo-hermaphroditism, is an old clinical term for an organism that is born with primary sex characteristics of one sex but develops the secondary sex characteristics that are different from what would be expected on the basis of the gonadal tissue (ovary or testis).
Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.
Pseudoporphyria (also known as "Pseudoporphyria cutanea tarda") is a bullous photosensitivity that clinically and histologically mimics porphyria cutanea tarda.
Psychosocial short stature (PSS) or psychosocial dwarfism, sometimes called psychogenic or stress dwarfism, or Kaspar Hauser syndrome, is a growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.
Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction.
A purine is a heterocyclic aromatic organic compound that consists of a pyrimidine ring fused to an imidazole ring.
Pyridoxine, also known as vitamin B6, is a form of vitamin B6 found commonly in food and used as dietary supplement.
Pyrimidine is an aromatic heterocyclic organic compound similar to pyridine.
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and to accumulate in the blood.
Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD) is one of the most common neurodegenerative disorders associated with abnormal mitochondrial metabolism.
Pyruvic acid (CH3COCOOH) is the simplest of the alpha-keto acids, with a carboxylic acid and a ketone functional group.
Raoul Bensaude (26 January 1866 – 25 October 1938) was a French physician born in the Azores.
Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar (glucose) is excreted in the urine despite normal or low blood glucose levels.
Renal physiology (Latin rēnēs, "kidneys") is the study of the physiology of the kidney.
Respiratory acidosis is a medical emergency in which decreased ventilation (hypoventilation) increases the concentration of carbon dioxide in the blood and decreases the blood's pH (a condition generally called acidosis).
Riboflavin, also known as vitamin B2, is a vitamin found in food and used as a dietary supplement.
Rickets is a condition that results in weak or soft bones in children.
Riedel's thyroiditis, also called Riedel's struma is a chronic form of thyroiditis.
Rotor syndrome, also called Rotor type hyperbilirubinemia, is a rare, relatively benign autosomal recessive bilirubin disorder.
Sandhoff disease, also known as Sandhoff–Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, and some oligosaccharides.
Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal storage disease.
Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal recessive metabolic disorder characterized by an increased concentration of sarcosine in blood plasma and urine ("sarcosinuria").
Scurvy is a disease resulting from a lack of vitamin C (ascorbic acid).
Secondary hyperparathyroidism (SHPT) refers to the excessive secretion of parathyroid hormone (PTH) by the parathyroid glands in response to hypocalcemia (low blood calcium levels) and associated hyperplasia of the glands.
Secondary systemic amyloidosis is a condition that involves the adrenal gland, liver, spleen, and kidney as a result of amyloid deposition due to a chronic disease such as Behçet's disease, ulcerative colitis, etc.
Secretion is the movement of material from one point to another, e.g. secreted chemical substance from a cell or gland.
Selenium deficiency is relatively rare in healthy well-nourished individuals.
A sequela (usually used in the plural, sequelae) is a pathological condition resulting from a disease, injury, therapy, or other trauma.
Sheehan's syndrome, also known as postpartum pituitary gland necrosis, is hypopituitarism (decreased functioning of the pituitary gland), caused by ischemic necrosis due to blood loss and hypovolemic shock during and after childbirth.
Short stature refers to a height of a human being which is below typical.
Mucolipidosis type I (ML I) or sialidosis is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
Small-cell carcinoma (also known as "small-cell lung cancer", or "oat-cell carcinoma") is a type of highly malignant cancer that most commonly arises within the lung, although it can occasionally arise in other body sites, such as the cervix, prostate, and gastrointestinal tract.
Sphingolipids are a class of lipids containing a backbone of sphingoid bases, a set of aliphatic amino alcohols that includes sphingosine.
Sphingolipidoses (singular "sphingolipidosis") are a class of lipid storage disorders relating to sphingolipid metabolism.
Sucrose intolerance, also called sucrase-isomaltase deficiency, congenital sucrase-isomaltase deficiency (CSID), or genetic sucrase-isomaltase deficiency (GSID), is the condition in which sucrase-isomaltase, an enzyme needed for proper metabolism of sucrose (sugar) and starch (i.e., grains and rice), is not produced or the enzyme produced is either partially functional or non-functional in the small intestine.
Sulfite oxidase is an enzyme in the mitochondria of all eukaryotes.
Sulfur or sulphur is a chemical element with symbol S and atomic number 16.
Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is characterized by excessive unsuppressible release of antidiuretic hormone (ADH) either from the posterior pituitary gland, or an abnormal non-pituitary source.
Systemic primary carnitine deficiency (SPCD), also known as carnitine uptake defect, carnitine transporter deficiency (CTD) or systemic carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane.
Takahara (written: 高原 or 髙原) is a Japanese surname.
Tangier disease (also known as Familial alpha-lipoprotein deficiency) or hypoalphalipoproteinemia is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol", in the bloodstream.
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.
The testicle or testis is the male reproductive gland in all animals, including humans.
The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization.
Thelarche is the onset of secondary (postnatal) breast development, usually occurring at the beginning of puberty in girls.
Thiamine, also known as thiamin or vitamin B1, is a vitamin found in food, and manufactured as a dietary supplement and medication.
Thiamine deficiency is a medical condition of low levels of thiamine (vitamin B1).
The thymus is a specialized primary lymphoid organ of the immune system.
Thymus hyperplasia (or thymic hyperplasia) refers to an enlargement ("hyperplasia") of the thymus.
The thyroid gland, or simply the thyroid, is an endocrine gland in the neck, consisting of two lobes connected by an isthmus.
Thyroid dysgenesis or thyroid agenesis is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or severely underdeveloped.
Thyroid dyshormonogenesis (or dyshormogenetic goiter) is a rare condition due to genetic defects in the synthesis of thyroid hormones.
Thyroiditis is the inflammation of the thyroid gland.
Thyrotoxicosis factitia refers to a condition of thyrotoxicosis caused by the ingestion of exogenous thyroid hormone.
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized by deafness and leucism.
A tophus (Latin: "stone", plural tophi) is a deposit of uric acid crystals, in the form of monosodium urate crystals, in people with longstanding hyperuricemia (high levels of uric acid in the blood).
Toxic multinodular goiter (also known as toxic nodular goiter, or Plummer's disease) is a multinodular goiter associated with hyperthyroidism.
Transport or transportation is the movement of humans, animals and goods from one location to another.
Trimethylaminuria (TMAU; primary trimethylaminuria), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 (FMO3).
Tryptophan (symbol Trp or W) is an α-amino acid that is used in the biosynthesis of proteins.
Tyrosinase is an oxidase that is the rate-limiting enzyme for controlling the production of melanin.
Tyrosine (symbol Tyr or Y) or 4-hydroxyphenylalanine is one of the 20 standard amino acids that are used by cells to synthesize proteins.
Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine.
The urea cycle (also known as the ornithine cycle) is a cycle of biochemical reactions that produces urea ((NH2)2CO) from ammonia (NH3).
Variegate porphyria, also known by several other names, is an autosomal dominant porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin.
Very-low-density lipoprotein (VLDL), density relative to extracellular water, is a type of lipoprotein made by the liver.
A vitamin is an organic molecule (or related set of molecules) which is an essential micronutrient - that is, a substance which an organism needs in small quantities for the proper functioning of its metabolism - but cannot synthesize it (either at all, or in sufficient quantities), and therefore it must be obtained through the diet.
Vitamin A is a group of unsaturated nutritional organic compounds that includes retinol, retinal, retinoic acid, and several provitamin A carotenoids (most notably beta-carotene).
Vitamin C, also known as ascorbic acid and L-ascorbic acid, is a vitamin found in food and used as a dietary supplement.
Vitamin D is a group of fat-soluble secosteroids responsible for increasing intestinal absorption of calcium, magnesium, and phosphate, and multiple other biological effects.
Vitamin D deficiency, or hypovitaminosis D, most commonly results from inadequate sunlight exposure (in particular sunlight with adequate ultraviolet B rays).
Vitamin E is a group of eight compounds that include four tocopherols and four tocotrienols.
Vitamin K is a group of structurally similar, fat-soluble vitamins that the human body requires for complete synthesis of certain proteins that are prerequisites for blood coagulation (K from Koagulation, Danish for "coagulation") and which the body also needs for controlling binding of calcium in bones and other tissues.
Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation changes.
Wernicke encephalopathy (WE) also Wernicke's encephalopathy is the presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1).
Wilson's disease is a genetic disorder in which copper builds up in the body.
The World Health Organization (WHO; French: Organisation mondiale de la santé) is a specialized agency of the United Nations that is concerned with international public health.
Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine.
A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis),, is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states.
Xeroderma or xerodermia (also known as xerosis cutis), derived from the Greek words for "dry skin", is a condition involving the integumentary system, which in most cases can safely be treated with emollients or moisturizers.
Xerophthalmia (from Ancient Greek xērós (ξηρός) meaning dry and ophthalmos (οφθαλμός) meaning eye) is a medical condition in which the eye fails to produce tears.
Zinc is a chemical element with symbol Zn and atomic number 30.
Zinc deficiency is defined either as insufficient zinc to meet the needs of the body, or as a serum zinc level below the normal range.
Zollinger–Ellison syndrome (ZES) is a disease in which tumors cause the stomach to produce too much acid, resulting in peptic ulcers.
5α-Reductase deficiency (5-ARD) is an autosomal recessive intersex condition caused by a mutation of the 5α reductase type II gene.