KEGG   NETWORK: N00703Help
Entry
N00703                      Network                                

Name
PTS deficiency in tetrahydrobiopterin biosynthesis
Definition
GTP -- GCH1 >> PTS*
  Expanded
C00044 -- 2643 >> 5805v1
Class
nt06016 Phenylalanine and tyrosine metabolism
Type
Variant
Pathway
hsa00790  Folate biosynthesis
Disease
H00167  Phenylketonuria
Gene
2643  GCH1; GTP cyclohydrolase 1
5805  PTS; 6-pyruvoyltetrahydropterin synthase
Variant
5805v1  PTS deficiency
Metabolite
C00044  GTP
Reference
PMID:8178819
  Authors
Thony B, Leimbacher W, Blau N, Harvie A, Heizmann CW
  Title
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
  Journal
Am J Hum Genet 54:782-92 (1994)
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