Phenylketonurias
Synonyms
Atypical PKU
Atypical Phenylketonuria
BH4 Deficiency
Classical Phenylketonuria
DHPR Deficiency
Deficiency Disease, Dihydropteridine Reductase
Deficiency Disease, Phenylalanine Hydroxylase
Deficiency Disease, Phenylalanine Hydroxylase, Severe
Deficiency, BH4
Deficiency, DHPR
Deficiency, Dihydropteridine Reductase
Deficiency, PAH
Deficiency, Phenylalanine Hydroxylase
Deficiency, QDPR
Deficiency, Tetrahydrobiopterin
Dihydropteridine Reductase Deficiency
Dihydropteridine Reductase Deficiency Disease
Disease, Folling
Disease, Folling's
Folling Disease
Folling's Disease
HPABH4C
Hyperphenylalaninaemia
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism
Hyperphenylalaninemia, BH4-Deficient, C
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
PKU, Atypical
Phenylalanine Hydroxylase Deficiency
Phenylalanine Hydroxylase Deficiency Disease
Phenylalanine Hydroxylase Deficiency Disease, Severe
Phenylketonuria
Phenylketonuria I
Phenylketonuria II
Phenylketonuria Type 2
Phenylketonuria, Atypical
Phenylketonuria, Classical
QDPR Deficiency
Quinoid Dihydropteridine Reductase Deficiency
Tetrahydrobiopterin Deficiency
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).