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Disease Phenylketonurias

Name Phenylketonurias
Synonyms Atypical Phenylketonuria | Atypical PKU | BH4 Deficiency | Classical Phenylketonuria | Deficiency, BH4 | Deficiency, DHPR | Deficiency, Dihydropteridine Reductase | Deficiency Disease, Dihydropteridine Reductase | Deficiency Disease, Phenylalanine Hydroxylase | Deficiency Disease, Phenylalanine Hydroxylase, Severe | Deficiency, PAH | Deficiency, Phenylalanine Hydroxylase | Deficiency, QDPR | Deficiency, Tetrahydrobiopterin | DHPR Deficiency | Dihydropteridine Reductase Deficiency | Dihydropteridine Reductase Deficiency Disease | Disease, Folling | Disease, Folling's | Folling Disease | FOLLING DISEASE HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED | Folling's Disease | HPABH4C | HPA, NON-PKU MILD, INCLUDED | Hyperphenylalaninaemia | Hyperphenylalaninemia, BH4-Deficient, C | Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism | Hyperphenylalaninemia, Non Phenylketonuric | Hyperphenylalaninemia, Non-Phenylketonuric | Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency | Non Phenylketonuric Hyperphenylalaninemia | Non-Phenylketonuric Hyperphenylalaninemia | Non-Phenylketonuric Hyperphenylalaninemias | Oligophrenia Phenylpyruvica | PAH Deficiency | Phenylalanine Hydroxylase Deficiency | Phenylalanine Hydroxylase Deficiency Disease | Phenylalanine Hydroxylase Deficiency Disease, Severe | Phenylketonuria | Phenylketonuria, Atypical | Phenylketonuria, Classical | Phenylketonuria I | Phenylketonuria II | PHENYLKETONURIA, MATERNAL, INCLUDED | Phenylketonuria Type 2 | PKU | PKU, Atypical | QDPR Deficiency | Quinoid Dihydropteridine Reductase Deficiency | Tetrahydrobiopterin Deficiency
Definition A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D010661
OMIM® ID 261600
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Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Phenylketonurias Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Phenylketonurias Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Phenylketonurias Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Phenylketonurias Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Phenylketonurias Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Phenylketonurias Has associated chemicals Has associated genes

Top ↑ Descendants

Phenylketonurias Has associated chemicals Has associated genes
  6-pyruvoyl-tetrahydropterin synthase deficiency Has associated chemicals Has associated genes
  Hyperphenylalaninemia, BH4-Deficient, B Has associated chemicals Has associated genes
  HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C Has associated chemicals Has associated genes
  HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D Has associated chemicals Has associated genes
  Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency
  HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT Has associated chemicals Has associated genes
  Hyperphenylalaninemia, Non-Pku Mild
  Hyperphenylalaninemia with primapterinuria
  Phenylketonuria, Maternal