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bn:00061939n
Noun Concept
Categories: Autosomal recessive disorders, Skin conditions resulting from errors in metabolism, Amino acid metabolism disorders, Rare diseases, Disorders causing seizures
EN
phenylketonuria  PKU  Folling's disease  Classical Phenylketonuria  corn-free diet
EN
A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency WordNet 3.0
Definitions
Relations
Sources
EN
A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency WordNet 3.0 & Open English WordNet
Phenylketonuria is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Wikipedia
A genetic disease Wikipedia Disambiguation
Amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase, rendering it nonfunctional Wikidata
A metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine. Wiktionary
Metabolic disorder. Wiktionary (translation)
IS A
inborn error of metabolism
rare disease
disease
hyperphenylalaninemia
enzymopathy
GENETIC ASSOCIATION
phenylalanine hydroxylase
HEALTH SPECIALTY
endocrinology
WordNet 3.0 & Open English WordNet
EN
phenylketonuria, PKU
Wikipedia
EN
phenylketonuria
Wikidata
EN
phenylketonuria
Wiktionary
EN
phenylketonuria
Wikipedia Redirections
EN
Classical Phenylketonuria, corn-free diet, Deficiency disease, Phenylalanine Hydroxylase, Folling's disease, Folling's Disease, Folling's syndrome, Folling disease, Følling's disease, Hyperphenylalaninemic embryopathy, Maternal phenylketonuria, Phenylalanine hydroxylase deficiency, Phenylalaninemia, Phenylketonuria, maternal, Phenylketonuria - PKU, Phenylketonuria type II, Phenylketonurias, phenylketonuric, Phenylketonuric embryopathy, Phenylketonurics, Phenylketoturia, Phenylketurnia, Phenylketuronics, Phenylpyruvic oligophrenia, Pheylketonuria, PKU, PKU disease, Tetrahydrobiopterin-deficient hyperphenylalaninemia
Wikidata Alias
EN
Følling's disease, phenylalaninemia, phenylketonurias, PKU

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