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Entry
N00704                      Network                                

Name
GCH1 deficiency in tetrahydrobiopterin biosynthesis
Definition
GTP -- GCH1*
  Expanded
C00044 -- 2643v1
Class
nt06016 Phenylalanine and tyrosine metabolism
Type
Variant
Pathway
hsa00790  Folate biosynthesis
Disease
H00167  Phenylketonuria
Gene
2643  GCH1; GTP cyclohydrolase 1
Variant
2643v1  GCH1 deficiency
Metabolite
C00044  GTP
Reference
PMID:7730309
  Authors
Ichinose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina A, Rouse B, Matalon R, Fujita K, Nagatsu T
  Title
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency.
  Journal
J Biol Chem 270:10062-71 (1995)
DOI:10.1074/jbc.270.17.10062
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