Phenylketonurias

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).

Also Known As:

Phenylketonuria; Classical Phenylketonuria; Deficiency Disease, Phenylalanine Hydroxylase; Folling Disease; Hyperphenylalaninaemia; Non Phenylketonuric Hyperphenylalaninemia; Phenylalanine Hydroxylase Deficiency Disease; BH4 Deficiency; DHPR Deficiency; Deficiency Disease, Dihydropteridine Reductase; Deficiency Disease, Phenylalanine Hydroxylase, Severe; Dihydropteridine Reductase Deficiency; Folling's Disease; HPABH4C; Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism; Hyperphenylalaninemia, BH4-Deficient, C; Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency; Non-Phenylketonuric Hyperphenylalaninemia; Oligophrenia Phenylpyruvica; PAH Deficiency; PKU, Atypical; Phenylalanine Hydroxylase Deficiency; Phenylalanine Hydroxylase Deficiency Disease, Severe; Phenylketonuria I; Phenylketonuria II; Phenylketonuria Type 2; Phenylketonuria, Atypical; Phenylketonuria, Classical; QDPR Deficiency; Quinoid Dihydropteridine Reductase Deficiency; Tetrahydrobiopterin Deficiency; Atypical PKU; Atypical Phenylketonuria; Biopterin Deficiencies; Deficiency, BH4; Deficiency, Biopterin; Deficiency, DHPR; Deficiency, Dihydropteridine Reductase; Deficiency, PAH; Deficiency, Phenylalanine Hydroxylase; Deficiency, QDPR; Deficiency, Tetrahydrobiopterin; Disease, Folling; Disease, Folling's; Hyperphenylalaninemia, Non Phenylketonuric; Non-Phenylketonuric Hyperphenylalaninemias; Biopterin Deficiency; Dihydropteridine Reductase Deficiency Disease; Hyperphenylalaninemia, Non-Phenylketonuric

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Phenylketonurias: 3454
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Phenylketonurias: 3454
    - Inborn Errors Amino Acid Metabolism: 1
      - Phenylketonurias: 3454
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Phenylketonurias: 3454
    - Inborn Errors Amino Acid Metabolism: 1
      - Phenylketonurias: 3454
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Phenylketonurias: 3454

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