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109 relations: Abdominal pain, Acute intermittent porphyria, Adrenal insufficiency, Alkaptonuria, Amino acid, Anemia, Archibald Garrod, Autopsy, Biopsy, Birth defect, Blood plasma, Bone marrow, Brain, British Columbia, Cancer, Carbamoyl phosphate synthetase I deficiency, Carbohydrate, Cardiomegaly, Carnitine, Congenital adrenal hyperplasia, Congenital disorders of amino acid metabolism, Dehydration, Delayed puberty, Dementia, Diabetes mellitus, Diarrhea, Edema, Encephalopathy, Enzyme, Epileptic seizure, Failure to thrive, Ferric chloride test, Gas chromatography–mass spectrometry, Gaucher's disease, Gene, Gene therapy, Genetic disorder, Genetic testing, Glucose-6-phosphate dehydrogenase deficiency, Glutaric aciduria type 1, Glycogen storage disease, Hearing loss, Heart failure, Hepatomegaly, Hirsutism, Hypertension, Hyperventilation, Hypoglycemia, Hypogonadism, Hypotension, ..., Hypothyroidism, Immunodeficiency, Inborn error of lipid metabolism, Inborn errors of carbohydrate metabolism, Inborn errors of steroid metabolism, Intersex, Jaundice, Kearns–Sayre syndrome, Kidney failure, Lactic acidosis, Lesch–Nyhan syndrome, Lipoid congenital adrenal hyperplasia, Liver, Liver failure, Lymphadenopathy, Lysosomal storage disease, Major depressive disorder, Maple syrup urine disease, Mass spectrometry, Medical test, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Metabolism, Mitochondrial disease, Mitochondrion, Muscle, Myocardial infarction, National Institutes of Health, Neonatal heel prick, Newborn screening, Niemann–Pick disease, Ninhydrin, One gene–one enzyme hypothesis, Organic acid, Organic acidemia, Paper chromatography, Peroxisomal disorder, Peroxisome, Phenylketonuria, Pigment, Polyuria, Porphyrin, Precocious puberty, Product (chemistry), Psychosis, Purine, Pyrimidine, Rash, Respiratory failure, Specific developmental disorder, Splenomegaly, Stroke, Substrate (chemistry), Thiamine, Thrombocytopenia, Urine, Visual impairment, Vomiting, Zellweger syndrome, 2-Hydroxyglutaric aciduria. Expand index (59 more) »
Abdominal pain
Abdominal pain, also known as a stomach ache, is a symptom associated with both non-serious and serious medical issues.
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Acute intermittent porphyria
Acute intermittent porphyria (AIP) is a genetic metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin.
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Adrenal insufficiency
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.
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Alkaptonuria
Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein.
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Amino acid
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.
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Anemia
Anemia is a decrease in the total amount of red blood cells (RBCs) or hemoglobin in the blood, or a lowered ability of the blood to carry oxygen.
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Archibald Garrod
Sir Archibald Edward Garrod (25 November 1857 – 28 March 1936) was an English physician who pioneered the field of inborn errors of metabolism.
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Autopsy
An autopsy (post-mortem examination, obduction, necropsy, or autopsia cadaverum) is a highly specialized surgical procedure that consists of a thorough examination of a corpse by dissection to determine the cause and manner of death or to evaluate any disease or injury that may be present for research or educational purposes.
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Biopsy
A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist involving extraction of sample cells or tissues for examination to determine the presence or extent of a disease.
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Birth defect
A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause.
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Blood plasma
Blood plasma is a yellowish coloured liquid component of blood that normally holds the blood cells in whole blood in suspension; this makes plasma the extracellular matrix of blood cells.
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Bone marrow
Bone marrow is a semi-solid tissue which may be found within the spongy or cancellous portions of bones.
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Brain
The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals.
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British Columbia
British Columbia (BC; Colombie-Britannique) is the westernmost province of Canada, located between the Pacific Ocean and the Rocky Mountains.
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Cancer
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.
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Carbamoyl phosphate synthetase I deficiency
Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood due to a lack of the enzyme carbamoyl phosphate synthetase I. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high.
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Carbohydrate
A carbohydrate is a biomolecule consisting of carbon (C), hydrogen (H) and oxygen (O) atoms, usually with a hydrogen–oxygen atom ratio of 2:1 (as in water); in other words, with the empirical formula (where m may be different from n).
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Cardiomegaly
Cardiomegaly is a medical condition in which the heart is enlarged.
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Carnitine
Carnitine (β-hydroxy-γ-N-trimethylaminobutyric acid, 3-hydroxy-4-N,N,N- trimethylaminobutyrate) is a quaternary ammonium compound involved in metabolism in most mammals, plants and some bacteria. Carnitine may exist in two isomers, labeled D-carnitine and L-carnitine, as they are optically active. At room temperature, pure carnitine is a white powder, and a water-soluble zwitterion with low toxicity. Carnitine only exists in animals as the L-enantiomer, and D-carnitine is toxic because it inhibits the activity of L-carnitine. Carnitine, derived from an amino acid, is found in nearly all organisms and animal tissue. Carnitine is the generic expression for a number of compounds that include L-carnitine, acetyl-L-carnitine, and propionyl-L-carnitine. It is most accumulated in cardiac and skeletal muscles as it accounts for 0.1% of its dry matter. It was first derived from meat extracts in 1905, therefore the name carnitine is derived from Latin "carnus" or flesh. The body synthesizes enough carnitine from lysine side chains to keep up with the needs of energy production in the body as carnitine acts as a transporter of long-chain fatty acids into the mitochondria to be oxidized and produce energy. Some individuals with genetic or medical disorders (like preterm infants) cannot make enough, so this makes carnitine a conditionally essential nutrient for them.
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Congenital adrenal hyperplasia
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).
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Congenital disorders of amino acid metabolism
Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.
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Dehydration
In physiology, dehydration is a deficit of total body water, with an accompanying disruption of metabolic processes.
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Delayed puberty
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.
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Dementia
Dementia is a broad category of brain diseases that cause a long-term and often gradual decrease in the ability to think and remember that is great enough to affect a person's daily functioning.
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Diabetes mellitus
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.
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Diarrhea
Diarrhea, also spelled diarrhoea, is the condition of having at least three loose or liquid bowel movements each day.
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Edema
Edema, also spelled oedema or œdema, is an abnormal accumulation of fluid in the interstitium, located beneath the skin and in the cavities of the body, which can cause severe pain.
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Encephalopathy
Encephalopathy (from ἐγκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain, especially chronic degenerative conditions.
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Enzyme
Enzymes are macromolecular biological catalysts.
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Epileptic seizure
An epileptic seizure is a brief episode of signs or symptoms due to abnormally excessive or synchronous neuronal activity in the brain.
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Failure to thrive
Failure to thrive (FTT), more recently known as faltering weight or weight faltering, is a term used in pediatric medicine, as well as veterinary medicine (where it is also referred to as ill-thrift), to indicate insufficient weight gain or inappropriate weight loss.
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Ferric chloride test
The ferric chloride test is used to determine the presence of phenols in a given sample or compound (for instance natural phenols in a plant extract).
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Gas chromatography–mass spectrometry
Gas chromatography–mass spectrometry (GC-MS) is an analytical method that combines the features of gas-chromatography and mass spectrometry to identify different substances within a test sample.
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Gaucher's disease
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.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Gene therapy
In the medicine field, gene therapy (also called human gene transfer) is the therapeutic delivery of nucleic acid into a patient's cells as a drug to treat disease.
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Genetic disorder
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
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Genetic testing
Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.
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Glucose-6-phosphate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is an inborn error of metabolism that predisposes to red blood cell breakdown.
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Glutaric aciduria type 1
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.
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Glycogen storage disease
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.
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Hearing loss
Hearing loss, also known as hearing impairment, is a partial or total inability to hear.
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Heart failure
Heart failure (HF), often referred to as congestive heart failure (CHF), is when the heart is unable to pump sufficiently to maintain blood flow to meet the body's needs.
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Hepatomegaly
Hepatomegaly is the condition of having an enlarged liver.
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Hirsutism
Hirsutism is excessive body hair in men and women on parts of the body where hair is normally absent or minimal, such as on the chin or chest in particular, or the face or body in general.
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Hypertension
Hypertension (HTN or HT), also known as high blood pressure (HBP), is a long-term medical condition in which the blood pressure in the arteries is persistently elevated.
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Hyperventilation
Hyperventilation (a.k.a. overbreathing) occurs when the rate or tidal volume of breathing eliminates more carbon dioxide than the body can produce.
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Hypoglycemia
Hypoglycemia, also known as low blood sugar, is when blood sugar decreases to below normal levels.
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Hypogonadism
Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries —that may result in diminished sex hormone biosynthesis.
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Hypotension
Hypotension is low blood pressure, especially in the arteries of the systemic circulation.
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Hypothyroidism
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.
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Immunodeficiency
Immunodeficiency (or immune deficiency) is a state in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent.
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Inborn error of lipid metabolism
Numerous genetic disorders are caused by errors in fatty acid metabolism.
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Inborn errors of carbohydrate metabolism
Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of carbohydrates.
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Inborn errors of steroid metabolism
An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.
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Intersex
Intersex people are born with any of several variations in sex characteristics including chromosomes, gonads, sex hormones, or genitals that, according to the UN Office of the High Commissioner for Human Rights, "do not fit the typical definitions for male or female bodies".
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Jaundice
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and whites of the eyes due to high bilirubin levels.
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Kearns–Sayre syndrome
Kearns–Sayre syndrome (KSS) is a mitochondrial myopathy with a typical onset before 20 years of age.
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Kidney failure
Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys no longer work.
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Lactic acidosis
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.
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Lesch–Nyhan syndrome
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.
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Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH).
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Liver
The liver, an organ only found in vertebrates, detoxifies various metabolites, synthesizes proteins, and produces biochemicals necessary for digestion.
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Liver failure
Liver failure or hepatic insufficiency is the inability of the liver to perform its normal synthetic and metabolic function as part of normal physiology.
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Lymphadenopathy
Lymphadenopathy or adenopathy is disease of the lymph nodes, in which they are abnormal in size, number, or consistency.
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Lysosomal storage disease
Lysosomal storage diseases (LSDs) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function.
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Major depressive disorder
Major depressive disorder (MDD), also known simply as depression, is a mental disorder characterized by at least two weeks of low mood that is present across most situations.
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Maple syrup urine disease
Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids.
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Mass spectrometry
Mass spectrometry (MS) is an analytical technique that ionizes chemical species and sorts the ions based on their mass-to-charge ratio.
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Medical test
A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, and determine a course of treatment.
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Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency, often known as MCAD deficiency or MCADD, is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA.
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Metabolism
Metabolism (from μεταβολή metabolē, "change") is the set of life-sustaining chemical transformations within the cells of organisms.
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Mitochondrial disease
Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell.
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Mitochondrion
The mitochondrion (plural mitochondria) is a double-membrane-bound organelle found in most eukaryotic organisms.
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Muscle
Muscle is a soft tissue found in most animals.
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Myocardial infarction
Myocardial infarction (MI), commonly known as a heart attack, occurs when blood flow decreases or stops to a part of the heart, causing damage to the heart muscle.
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National Institutes of Health
The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research, founded in the late 1870s.
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Neonatal heel prick
The neonatal heel prick is a blood collection procedure done on newborns.
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Newborn screening
Newborn screening is a public health program of screening in infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period.
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Niemann–Pick disease
Niemann–Pick disease is a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells.
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Ninhydrin
Ninhydrin (2,2-dihydroxyindane-1,3-dione) is a chemical used to detect ammonia or primary and secondary amines.
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One gene–one enzyme hypothesis
The one gene–one enzyme hypothesis is the idea that genes act through the production of enzymes, with each gene responsible for producing a single enzyme that in turn affects a single step in a metabolic pathway.
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Organic acid
An organic acid is an organic compound with acidic properties.
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Organic acidemia
Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present.
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Paper chromatography
Paper chromatography is an analytical method used to separate colored chemicals or substances.
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Peroxisomal disorder
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.
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Peroxisome
A peroxisome is a type of organelle known as a microbody, found in virtually all eukaryotic cells.
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Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.
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Pigment
A pigment is a material that changes the color of reflected or transmitted light as the result of wavelength-selective absorption.
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Polyuria
Polyuria is excessive or an abnormally large production or passage of urine (greater than 2.5 or 3 L over 24 hours in adults).
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Porphyrin
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 (.
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Precocious puberty
In medicine, precocious puberty is puberty occurring at an unusually early age.
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Product (chemistry)
Products are the species formed from chemical reactions.
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Psychosis
Psychosis is an abnormal condition of the mind that results in difficulties telling what is real and what is not.
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Purine
A purine is a heterocyclic aromatic organic compound that consists of a pyrimidine ring fused to an imidazole ring.
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Pyrimidine
Pyrimidine is an aromatic heterocyclic organic compound similar to pyridine.
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Rash
A rash is a change of the human skin which affects its color, appearance, or texture.
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Respiratory failure
Respiratory failure results from inadequate gas exchange by the respiratory system, meaning that the arterial oxygen, carbon dioxide or both cannot be kept at normal levels.
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Specific developmental disorder
Specific developmental disorders (SDD) are disorders in which development is delayed in one specific area or areas,Ahuja Vyas: Textbook of Postgraduate Psychiatry (2 Vols.), 2nd ed.
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Splenomegaly
Splenomegaly is an enlargement of the spleen.
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Stroke
A stroke is a medical condition in which poor blood flow to the brain results in cell death.
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Substrate (chemistry)
In chemistry, a substrate is typically the chemical species being observed in a chemical reaction, which reacts with a reagent to generate a product.
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Thiamine
Thiamine, also known as thiamin or vitamin B1, is a vitamin found in food, and manufactured as a dietary supplement and medication.
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Thrombocytopenia
Thrombocytopenia is a condition characterized by abnormally low levels of thrombocytes, also known as platelets, in the blood.
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Urine
Urine is a liquid by-product of metabolism in humans and in many animals.
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Visual impairment
Visual impairment, also known as vision impairment or vision loss, is a decreased ability to see to a degree that causes problems not fixable by usual means, such as glasses.
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Vomiting
Vomiting, also known as emesis, puking, barfing, throwing up, among other terms, is the involuntary, forceful expulsion of the contents of one's stomach through the mouth and sometimes the nose.
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Zellweger syndrome
Zellweger syndrome, also called cerebrohepatorenal syndrome, is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual.
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2-Hydroxyglutaric aciduria
2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated levels of hydroxyglutaric acid in ones urine.
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Congenital metabolic disease, Enzyme deficiency, Enzymopathy, Errors of metabolism, Inborn amino acid metabolism disorder, Inborn error of metabolism, Inborn metabolic disorder, Inherited biochemical defects, Inherited metabolic diseases, Metabolic Diseases, Metabolic defect, Metabolic deficiencies, Metabolism, inborn error, Metabolism, inborn errors, Metabolistic disease, Storage disease, Storage disorder.
References
[1] https://en.wikipedia.org/wiki/Inborn_errors_of_metabolism
