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HGMD

HGNC

GENATLAS PHENOTYPE

last update : 5/09/2006

Symbol	HPABH4C
Location	4p15.32
Name	hyperphenylalaninemia, BH4-deficient, C
Other name(s)	dihydropteridine reductase deficiency quinoid dihydropteridine reductase deficiency hyperphenylalaninemia, malignant phenylketonuria DHPR deficiency
Corresponding gene	QDPR
Other symbol(s)	PKU2, QDPR
Main clinical features	neurologic deterioration
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Gene product

Name	quininoid dihydropteridine reductase (QDPR)

Remark(s)