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



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 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).