NETWORK: N00710
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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
Disease
H00165
Tyrosinemia
Gene
6898
TAT; tyrosine aminotransferase
3242
HPD; 4-hydroxyphenylpyruvate dioxygenase
Variant
3242v1
(HPD*) HPD deficiency
Metabolite
C00082
L-Tyrosine
Reference
PMID:
10942115
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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