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).

进入的组:

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

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Phenylketonurias

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