KEGG   NETWORK: N00707
Entry
N00707                      Network                                

Name
PCBD1 deficiency in tetrahydrobiopterin biosynthesis
Definition
BH4OH -- PCBD1*
  Expanded
C15522 -- 5092v1
Class
nt06016 Phenylalanine and tyrosine metabolism
Type
Variant
Disease
H00167  Phenylketonuria
Gene
5092  PCBD1; pterin-4 alpha-carbinolamine dehydratase 1
Variant
5092v1 (PCBD1*)  PCBD1 deficiency
Metabolite
C15522  4a-Hydroxytetrahydrobiopterin
Reference
PMID:9585615
  Authors
Thony B, Neuheiser F, Kierat L, Blaskovics M, Arn PH, Ferreira P, Rebrin I, Ayling J, Blau N
  Title
Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).
  Journal
Am J Hum Genet 62:1302-11 (1998)
DOI:10.1086/301887
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