KEGG   NETWORK: N00848
Entry
N00848                      Network                                

Name
GALE deficiency in galactose degradation
Definition
Gal -- GALM >> GALK1 >> GALT >> GALE*
  Expanded
C00124 -- 130589 >> 2584 >> 2592 >> 2582v1
Class
nt06023 Galactose degradation
Type
Variant
Disease
H00070  Galactosemia
H02010  Galactose epimerase deficiency
Gene
130589  GALM; galactose mutarotase
2584  GALK1; galactokinase 1
2592  GALT; galactose-1-phosphate uridylyltransferase
2582  GALE; UDP-galactose-4-epimerase
Variant
2582v1 (GALE*)  GALE deficiency
Metabolite
C00124  D-Galactose
Reference
PMID:9700591
  Authors
Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM
  Title
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.
  Journal
J Inherit Metab Dis 21:341-50 (1998)
DOI:10.1023/A:1005342306080
LinkDB

DBGET integrated database retrieval system