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Index Phenylketonuria

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. [1]

129 relations: Allele, Amino acid, Amyloid, Aspartame, Attention deficit hyperactivity disorder, Australia, Benzaldehyde, Benzene, Benzoic acid, Blood, Blood–brain barrier, Brazil, Bread, Canada, Catabolism, CD98, Chicken as food, China, Chromosome 12, Classical compound, Cofactor (biochemistry), Compound heterozygosity, Cottage cheese, Crayfish, Czechoslovakia, Denmark, Dermatitis, Diet (nutrition), Dominance (genetics), Dopamine, Egg white, Electroencephalography, Enzyme, Epileptic seizure, Evelyn Hickmans, Finland, Fish as food, Fitness (biology), Flowers for Algernon, France, Gene therapy, Genetic disorder, Genetic heterogeneity, Genetics, Glutamic acid, Heredity, Heterozygote advantage, Histidine, Horst Bickel, Human brain, ..., Hyperphenylalaninemia, Hypopigmentation, Inborn errors of metabolism, India, Infant formula, Intellectual disability, Ireland, Isoleucine, Italy, Ivar Asbjørn Følling, Japan, John Scott Medal, Ketone, Korea, L-DOPA, Learning disability, Legume, Leucine, Lobster, Lofenalac, Longevity, Low birth weight, Macaque, Magnetic resonance imaging, Maize, Mayo Clinic, Medical genetics, Melting point, Mental disorder, Metabolism, Methionine, Microcephaly, Molar concentration, Mutation, National Academy of Medicine, Neonatal heel prick, Newborn screening, Norway, Norwegians, Nut (fruit), Ochratoxin A, Oslo University Hospital, Rikshospitalet, Pasta, Pearl S. Buck, Pediatrics, Phenethylamine, Phenyl group, Phenylacetic acid, Phenylalanine, Phenylalanine ammonia-lyase, Phenylalanine hydroxylase, Phenylpyruvic acid, Philippines, Potato, Prolactin, Redox, Reference range, Robert Guthrie, Scotland, Shrimp, Soybean, Spirulina (dietary supplement), Tandem mass spectrometry, Tetrahydrobiopterin, Tetrahydrobiopterin deficiency, Threonine, Transaminase, Tryptophan, Tuna, Turkey, Turkey as food, Tyrosine, Tyrosine hydroxylase, United Kingdom, United States, Urine, Valine, Watercress, Zygosity. Expand index (79 more) »


An allele is a variant form of a given gene.

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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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Amyloids are aggregates of proteins that become folded into a shape that allows many copies of that protein to stick together forming fibrils.

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Aspartame (APM) is an artificial non-saccharide sweetener used as a sugar substitute in some foods and beverages.

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Attention deficit hyperactivity disorder

Attention-deficit hyperactivity disorder (ADHD) is a mental disorder of the neurodevelopmental type.

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Australia, officially the Commonwealth of Australia, is a sovereign country comprising the mainland of the Australian continent, the island of Tasmania and numerous smaller islands.

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Benzaldehyde (C6H5CHO) is an organic compound consisting of a benzene ring with a formyl substituent.

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Benzene is an important organic chemical compound with the chemical formula C6H6.

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Benzoic acid

Benzoic acid, C7H6O2 (or C6H5COOH), is a colorless crystalline solid and a simple aromatic carboxylic acid.

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Blood is a body fluid in humans and other animals that delivers necessary substances such as nutrients and oxygen to the cells and transports metabolic waste products away from those same cells.

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Blood–brain barrier

The blood–brain barrier (BBB) is a highly selective semipermeable membrane barrier that separates the circulating blood from the brain and extracellular fluid in the central nervous system (CNS).

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Brazil (Brasil), officially the Federative Republic of Brazil (República Federativa do Brasil), is the largest country in both South America and Latin America.

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Bread is a staple food prepared from a dough of flour and water, usually by baking.

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Canada is a country located in the northern part of North America.

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Catabolism (from Greek κάτω kato, "downward" and βάλλειν ballein, "to throw") is the set of metabolic pathways that breaks down molecules into smaller units that are either oxidized to release energy or used in other anabolic reactions.

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CD98 is a glycoprotein that is a heterodimer composed of SLC3A2 and SLC7A5 that forms the large neutral amino acid transporter (LAT1).

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Chicken as food

Chicken is the most common type of poultry in the world.

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China, officially the People's Republic of China (PRC), is a unitary one-party sovereign state in East Asia and the world's most populous country, with a population of around /1e9 round 3 billion.

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Chromosome 12

Chromosome 12 is one of the 23 pairs of chromosomes in humans.

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Classical compound

Classical compounds and neoclassical compounds are compound words composed from combining forms (which act as affixes or stems) derived from classical Latin or ancient Greek roots.

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Cofactor (biochemistry)

A cofactor is a non-protein chemical compound or metallic ion that is required for an enzyme's activity.

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Compound heterozygosity

Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state.

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Cottage cheese

Cottage cheese is a fresh cheese curd product with a mild flavor.

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Crayfish, also known as crawfish, crawdads, crawldads, freshwater lobsters, mountain lobsters, mudbugs or yabbies, are freshwater crustaceans resembling small lobsters, to which they are related; taxonomically, they are members of the superfamilies Astacoidea and Parastacoidea.

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Czechoslovakia, or Czecho-Slovakia (Czech and Československo, Česko-Slovensko), was a sovereign state in Central Europe that existed from October 1918, when it declared its independence from the Austro-Hungarian Empire, until its peaceful dissolution into the:Czech Republic and:Slovakia on 1 January 1993.

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Denmark (Danmark), officially the Kingdom of Denmark,Kongeriget Danmark,.

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Dermatitis, also known as eczema, is a group of diseases that results in inflammation of the skin.

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Diet (nutrition)

In nutrition, diet is the sum of food consumed by a person or other organism.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Dopamine (DA, a contraction of 3,4-dihydroxyphenethylamine) is an organic chemical of the catecholamine and phenethylamine families that plays several important roles in the brain and body.

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Egg white

Egg white is the clear liquid (also called the albumen or the glair/glaire) contained within an egg.

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Electroencephalography (EEG) is an electrophysiological monitoring method to record electrical activity of the brain.

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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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Evelyn Hickmans

Evelyn Marion Hickmans was a pioneer in developing a treatment for phenylketonuria together with Horst Bickel and John Gerrard.

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Finland (Suomi; Finland), officially the Republic of Finland is a country in Northern Europe bordering the Baltic Sea, Gulf of Bothnia, and Gulf of Finland, between Norway to the north, Sweden to the northwest, and Russia to the east.

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Fish as food

Many species of fish are consumed as food in virtually all regions around the world.

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Fitness (biology)

Fitness (often denoted w or ω in population genetics models) is the quantitative representation of natural and sexual selection within evolutionary biology.

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Flowers for Algernon

Flowers for Algernon is a science fiction short story and subsequent novel written by Daniel Keyes.

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France, officially the French Republic (République française), is a sovereign state whose territory consists of metropolitan France in Western Europe, as well as several overseas regions and territories.

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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 heterogeneity

Genetic heterogeneity occurs through the production of single or similar phenotypes through different genetic mechanisms.

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Genetics is the study of genes, genetic variation, and heredity in living organisms.

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Glutamic acid

Glutamic acid (symbol Glu or E) is an α-amino acid with formula.

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Heredity is the passing on of traits from parents to their offspring, either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.

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Heterozygote advantage

A heterozygote advantage describes the case in which the heterozygous genotype has a higher relative fitness than either the homozygous dominant or homozygous recessive genotype.

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Histidine (symbol His or H) is an α-amino acid that is used in the biosynthesis of proteins.

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Horst Bickel

Horst Bickel (28 June 1918 – 1 December 2000) was a German doctor.

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Human brain

The human brain is the central organ of the human nervous system, and with the spinal cord makes up the central nervous system.

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Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood.

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Hypopigmentation is the loss of skin color.

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Inborn errors of metabolism

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.

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India (IAST), also called the Republic of India (IAST), is a country in South Asia.

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Infant formula

Infant formula, or baby formula, is a manufactured food designed and marketed for feeding to babies and infants under 12 months of age, usually prepared for bottle-feeding or cup-feeding from powder (mixed with water) or liquid (with or without additional water).

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Intellectual disability

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.

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Ireland (Éire; Ulster-Scots: Airlann) is an island in the North Atlantic.

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Isoleucine (symbol Ile or I) is an α-amino acid that is used in the biosynthesis of proteins.

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Italy (Italia), officially the Italian Republic (Repubblica Italiana), is a sovereign state in Europe.

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Ivar Asbjørn Følling

Ivar Asbjørn Følling (23 August 1888 – 24 January 1973) was a Norwegian physician and biochemist.

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Japan (日本; Nippon or Nihon; formally 日本国 or Nihon-koku, lit. "State of Japan") is a sovereign island country in East Asia.

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John Scott Medal

The John Scott Legacy Medal and Premium, created in 1816, is a medal presented to men and women whose inventions improved the "comfort, welfare, and happiness of human kind" in a significant way.

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In chemistry, a ketone (alkanone) is an organic compound with the structure RC(.

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Korea is a region in East Asia; since 1945 it has been divided into two distinctive sovereign states: North Korea and South Korea.

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L-DOPA, also known as levodopa or L-3,4-dihydroxyphenylalanine is an amino acid that is made and used as part of the normal biology of humans, as well as some animals and plants.

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Learning disability

Learning disability is a classification that includes several areas of functioning in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors.

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A legume is a plant or its fruit or seed in the family Fabaceae (or Leguminosae).

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Leucine (symbol Leu or L) is an essential amino acid that is used in the biosynthesis of proteins.

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Lobsters comprise a family (Nephropidae, sometimes also Homaridae) of large marine crustaceans.

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Lofenalac (pronunciation:Lo-fen-alac) is a registered, trademarked infant powder formula prescribed to replace milk in the diets of Phenylketonuria sufferers in the infant and child stage.

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The word "longevity" is sometimes used as a synonym for "life expectancy" in demography.

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Low birth weight

Low birth weight (LBW) is defined by the World Health Organization as a birth weight of a infant of 2,499 g or less, regardless of gestational age.

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The macaques (or pronunciation by Oxford Dictionaries) constitute a genus (Macaca) of Old World monkeys of the subfamily Cercopithecinae.

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Magnetic resonance imaging

Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body in both health and disease.

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Maize (Zea mays subsp. mays, from maíz after Taíno mahiz), also known as corn, is a cereal grain first domesticated by indigenous peoples in southern Mexico about 10,000 years ago.

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Mayo Clinic

The Mayo Clinic is a nonprofit academic medical center based in Rochester, Minnesota focused on integrated clinical practice, education, and research.

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Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

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Melting point

The melting point (or, rarely, liquefaction point) of a substance is the temperature at which it changes state from solid to liquid at atmospheric pressure.

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Mental disorder

A mental disorder, also called a mental illness or psychiatric disorder, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning.

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Metabolism (from μεταβολή metabolē, "change") is the set of life-sustaining chemical transformations within the cells of organisms.

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Methionine (symbol Met or M) is an essential amino acid in humans.

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Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.

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Molar concentration

Molar concentration (also called molarity, amount concentration or substance concentration) is a measure of the concentration of a chemical species, in particular of a solute in a solution, in terms of amount of substance per unit volume of solution.

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In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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National Academy of Medicine

The National Academy of Medicine (NAM), formerly called the Institute of Medicine (IoM), is an American nonprofit, non-governmental organization.

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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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Norway (Norwegian: (Bokmål) or (Nynorsk); Norga), officially the Kingdom of Norway, is a unitary sovereign state whose territory comprises the western portion of the Scandinavian Peninsula plus the remote island of Jan Mayen and the archipelago of Svalbard.

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Norwegians (nordmenn) are a Germanic ethnic group native to Norway.

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Nut (fruit)

A nut is a fruit composed of an inedible hard shell and a seed, which is generally edible.

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Ochratoxin A

Ochratoxin A—a toxin produced by different Aspergillus and Penicillium species — is one of the most-abundant food-contaminating mycotoxins.

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Oslo University Hospital, Rikshospitalet

Oslo University Hospital, Rikshospitalet is one of the four main campuses of Oslo University Hospital in Oslo, Norway.

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Pasta is a staple food of traditional Italian cuisine, with the first reference dating to 1154 in Sicily.

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Pearl S. Buck

Pearl Sydenstricker Buck (June 26, 1892 – March 6, 1973; also known by her Chinese name Sai Zhenzhu) was an American writer and novelist.

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Pediatrics (also spelled paediatrics or pædiatrics) is the branch of medicine that involves the medical care of infants, children, and adolescents.

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Phenethylamine (PEA) is an organic compound, natural monoamine alkaloid, and trace amine which acts as a central nervous system stimulant in humans.

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Phenyl group

In organic chemistry, the phenyl group or phenyl ring is a cyclic group of atoms with the formula C6H5.

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Phenylacetic acid

Phenylacetic acid (PAA) (conjugate base phenylacetate), also known by various synonyms, is an organic compound containing a phenyl functional group and a carboxylic acid functional group.

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Phenylalanine (symbol Phe or F) is an α-amino acid with the formula.

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Phenylalanine ammonia-lyase

Phenylalanine ammonia lyase is an enzyme that catalyzes a reaction converting L-phenylalanine to ammonia and ''trans''-cinnamic acid.

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Phenylalanine hydroxylase

Phenylalanine hydroxylase (PAH) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine.

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Phenylpyruvic acid

Phenylpyruvic acid is the organic compound with the formula C6H5CH2C(O)CO2H.

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The Philippines (Pilipinas or Filipinas), officially the Republic of the Philippines (Republika ng Pilipinas), is a unitary sovereign and archipelagic country in Southeast Asia.

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The potato is a starchy, tuberous crop from the perennial nightshade Solanum tuberosum.

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Prolactin (PRL), also known as luteotropic hormone or luteotropin, is a protein that is best known for its role in enabling mammals, usually females, to produce milk.

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Redox (short for reduction–oxidation reaction) (pronunciation: or) is a chemical reaction in which the oxidation states of atoms are changed.

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Reference range

In health-related fields, a reference range or reference interval is the range of values for a physiologic measurement in healthy persons (for example, the amount of creatinine in the blood, or the partial pressure of oxygen).

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Robert Guthrie

Robert Guthrie, MD, Ph.D. (June 28, 1916 – June 24, 1995) was an American microbiologist, best known for developing the bacterial inhibition assay used to screen infants for phenylketonuria at birth, before the development of irreversible neurological damage.

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Scotland (Alba) is a country that is part of the United Kingdom and covers the northern third of the island of Great Britain.

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The term shrimp is used to refer to some decapod crustaceans, although the exact animals covered can vary.

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The soybean (Glycine max), or soya bean, is a species of legume native to East Asia, widely grown for its edible bean, which has numerous uses.

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Spirulina (dietary supplement)

Spirulina represents a biomass of cyanobacteria (blue-green algae) that can be consumed by humans and other animals.

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Tandem mass spectrometry

Tandem mass spectrometry, also known as MS/MS or MS2, involves multiple steps of mass spectrometry selection, with some form of fragmentation occurring in between the stages.

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Tetrahydrobiopterin (BH4, THB), also known as sapropterin, is a naturally occurring essential cofactor of the three aromatic amino acid hydroxylase enzymes, used in the degradation of amino acid phenylalanine and in the biosynthesis of the neurotransmitters serotonin (5-hydroxytryptamine, 5-HT), melatonin, dopamine, norepinephrine (noradrenaline), epinephrine (adrenaline), and is a cofactor for the production of nitric oxide (NO) by the nitric oxide synthases.

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Tetrahydrobiopterin deficiency

Tetrahydrobiopterin deficiency (THBD, BH4D), also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine.

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Threonine (symbol Thr or T) is an amino acid that is used in the biosynthesis of proteins.

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Transaminases or aminotransferases are enzymes that catalyze a transamination reaction between an amino acid and an α-keto acid.

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Tryptophan (symbol Trp or W) is an α-amino acid that is used in the biosynthesis of proteins.

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A tuna is a saltwater fish that belongs to the tribe Thunnini, a sub-grouping of the mackerel family (Scombridae).

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Turkey (Türkiye), officially the Republic of Turkey (Türkiye Cumhuriyeti), is a transcontinental country in Eurasia, mainly in Anatolia in Western Asia, with a smaller portion on the Balkan peninsula in Southeast Europe.

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Turkey as food

Turkey meat, commonly referred to as just turkey, is the meat from turkeys, typically domesticated turkeys.

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Tyrosine (symbol Tyr or Y) or 4-hydroxyphenylalanine is one of the 20 standard amino acids that are used by cells to synthesize proteins.

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Tyrosine hydroxylase

Tyrosine hydroxylase or tyrosine 3-monooxygenase is the enzyme responsible for catalyzing the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine (L-DOPA).

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United Kingdom

The United Kingdom of Great Britain and Northern Ireland, commonly known as the United Kingdom (UK) or Britain,Usage is mixed with some organisations, including the and preferring to use Britain as shorthand for Great Britain is a sovereign country in western Europe.

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United States

The United States of America (USA), commonly known as the United States (U.S.) or America, is a federal republic composed of 50 states, a federal district, five major self-governing territories, and various possessions.

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Urine is a liquid by-product of metabolism in humans and in many animals.

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Valine (symbol Val or V) is an α-amino acid that is used in the biosynthesis of proteins.

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Watercress is an aquatic plant species with the botanical name Nasturtium officinale. This should not be confused with the profoundly different and unrelated group of plants with the common name of nasturtium, within the genus Tropaeolum.

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Zygosity is the degree of similarity of the alleles for a trait in an organism.

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Classical Phenylketonuria, Deficiency disease, Phenylalanine Hydroxylase, Folling disease, Folling's Disease, Folling's disease, Folling's syndrome, Følling's disease, Large neutral amino acid-transporter 1, Maternal phenylketonuria, PKU, PKU disease, Phenylalanine hydroxylase deficiency, Phenylalaninemia, Phenylketonuria - PKU, Phenylketonuria type II, Phenylketonuria, maternal, Phenylketonurias, Phenylketonuric, Phenylketonuric embryopathy, Phenylketonurics, Phenylketoturia, Phenylketurnia, Phenylketuronics, Phenylpyruvic oligophrenia, Pheylketonuria, Tetrahydrobiopterin-deficient hyperphenylalaninemia.


[1] https://en.wikipedia.org/wiki/Phenylketonuria

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