KEGG   NETWORK: N00739
Entry
N00739                      Network                                

Name
ALDOA deficiency in glycolysis
Definition
Glc-6P -- GPI >> PFK >> ALDOA*
  Expanded
C00668 -- 2821 >> (5211,5213,5214) >> 226v1
Class
nt06017 Glycogen metabolism
Type
Variant
Disease
H00069  Glycogen storage disease
H01952  Glycogen storage disease type XII
Gene
2821  GPI; glucose-6-phosphate isomerase
5211  PFKL; phosphofructokinase, liver type
5213  PFKM; phosphofructokinase, muscle
5214  PFKP; phosphofructokinase, platelet
226  ALDOA; aldolase, fructose-bisphosphate A
Variant
226v1 (ALDOA*)  ALDOA deficiency
Metabolite
C00668  alpha-D-Glucose 6-phosphate
Reference
PMID:2825199
  Authors
Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K
  Title
Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.
  Journal
Proc Natl Acad Sci U S A 84:8623-7 (1987)
DOI:10.1073/pnas.84.23.8623
LinkDB

DBGET integrated database retrieval system