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Entry
N00706                      Network                                

Name
QDPR deficiency in tetrahydrobiopterin biosynthesis
Definition
BH4OH -- PCBD1/2 >> QDPR* // BH4
  Expanded
C15522 -- (5092,84105) >> 5860v1 // C00272
Class
nt06016 Phenylalanine and tyrosine metabolism
Type
Variant
Pathway
hsa00790  Folate biosynthesis
Disease
H00167  Phenylketonuria
Gene
5092  PCBD1; pterin-4 alpha-carbinolamine dehydratase 1
84105  PCBD2; pterin-4 alpha-carbinolamine dehydratase 2
5860  QDPR; quinoid dihydropteridine reductase
Variant
5860v1  QDPR deficiency
Metabolite
C15522  4a-Hydroxytetrahydrobiopterin
C00272  Tetrahydrobiopterin
Reference
PMID:8326489
  Authors
Dianzani I, Howells DW, Ponzone A, Saleeba JA, Smooker PM, Cotton RG
  Title
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
  Journal
J Med Genet 30:465-9 (1993)
DOI:10.1136/jmg.30.6.465
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