DeCS Server - List Exact Term

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DeCS

Descriptor English:

Phenylketonurias

Descriptor Spanish:

Fenilcetonurias

Descriptor Portuguese:

Fenilcetonúrias

Synonyms English:

Dihydropteridine Reductase Deficiency Disease
Hyperphenylalaninemia, Non-Phenylketonuric
Phenylalanine Hydroxylase Deficiency Disease

Tree Number:

Definition English:

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).

Indexing Annotation English:

GEN: prefer specifics; note X refs: consider also PHENYLALANINE HYDROXYLASE /defic and DIHYDROPTERIDINE REDUCTASE /defic; DF: PKU

See Related English:

History Note English:

2000(1974)

Allowable Qualifiers English:

Record Number:

11086

Unique Identifier:

D010661

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