KEGG   NETWORK: N00701
Entry
N00701                      Network                                

Name
PAH deficiency in tyrosine biosynthesis
Definition
Phe+BH4 -- PAH*
  Expanded
(C00079+C00272) -- 5053v1
Class
nt06016 Phenylalanine and tyrosine metabolism
Type
Variant
Disease
H00167  Phenylketonuria
Gene
5053  PAH; phenylalanine hydroxylase
Variant
5053v1 (PAH*)  PAH deficiency
Metabolite
C00079  L-Phenylalanine
C00272  Tetrahydrobiopterin
Reference
  Authors
Danecka MK, Woidy M, Zschocke J, Feillet F, Muntau AC, Gersting SW
  Title
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
  Journal
J Med Genet 52:175-85 (2015)
DOI:10.1136/jmedgenet-2014-102621
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