Dihydropteridine reductase deficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin (BH4) synthesis pathway, inherited in the autosomal recessive pattern. It is one of the six known disorders causing tetrahydrobiopterin deficiency, and occurs in patients with mutations of the QDPR gene.
The disease presents with such symptoms as elevated levels of phenylalanine (hyperphenylalaninemia), microcephaly, hypotonus, mental retardation and epileptic seizures.
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Dihydropteridinereductasedeficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin (BH4) synthesis pathway, inherited in the autosomal...
QDPR (quinoid dihydropteridinereductase) is a human gene that produces the enzyme quinoid dihydropteridinereductase. This enzyme is part of the pathway...
Blau N, Thöny B, Renneberg A, Arnold LA, Hyland K (1998). "Dihydropteridinereductasedeficiency localized to the central nervous system". J. Inherit. Metab...
de Lange syndrome Dihydropteridinereductasedeficiency - in up to 25% of patients 5,10-methenyltetrahydrofolate synthetase deficiency Holoprosencephaly...
nitric oxide synthases. Chemically, its structure is that of a (dihydropteridinereductase) reduced pteridine derivative (quinonoid dihydrobiopterin).[citation...
phenylalanine hydroxylase (PAH) enzymatic activity but have a deficiency in dihydropteridinereductase (DHPR), an enzyme required for the regeneration of tetrahydrobiopterin...
process. BH2 must then be converted back to BH4 by the enzyme dihydropteridinereductase before it can be used again. Queuine depletion appears to impair...
released in this reaction. Then, the NAD(P)H dependent enzyme dihydropteridinereductase (DHPR) converts q-BH2 back to BH4. Each of the four subunits in...
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