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Entry
N00710                      Network                                

Name
HPD deficiency in tyrosine degradation
Definition
Tyr -- TAT >> HPD*
  Expanded
C00082 -- 6898 >> 3242v1
Class
nt06016 Phenylalanine and tyrosine metabolism
Type
Variant
Pathway
hsa00350  Tyrosine metabolism
Disease
H00165  Tyrosinemia
Gene
6898  TAT; tyrosine aminotransferase
3242  HPD; 4-hydroxyphenylpyruvate dioxygenase
Variant
3242v1  HPD deficiency
Metabolite
C00082  L-Tyrosine
Reference
  Authors
Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E
  Title
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.
  Journal
Hum Genet 106:654-62 (2000)
DOI:10.1007/s004390050039
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