KEGG   NETWORK: N00733
Entry
N00733                      Network                                

Name
LDHA deficiency in glycolysis
Definition
Glc-6P -- GPI >> PFK >> ALDO >> GAPDH >> PGK1/2 >> (PGAM,BPGM) >> ENO1/2/3/4 >> (PKLR,PKM) >> LDHA*
  Expanded
C00668 -- 2821 >> (5211,5213,5214) >> (226,229,230) >> 2597 >> (5230,5232) >> (441531,5223,5224,669) >> (2023,2026,2027,387712) >> (5313,5315) >> 3939v1
Class
nt06017 Glycogen metabolism
Type
Variant
Disease
H00069  Glycogen storage disease
H01946  Glycogen storage disease type XI
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
229  ALDOB; aldolase, fructose-bisphosphate B
230  ALDOC; aldolase, fructose-bisphosphate C
2597  GAPDH; glyceraldehyde-3-phosphate dehydrogenase
5230  PGK1; phosphoglycerate kinase 1
5232  PGK2; phosphoglycerate kinase 2
441531  PGAM4; phosphoglycerate mutase family member 4
5223  PGAM1; phosphoglycerate mutase 1
5224  PGAM2; phosphoglycerate mutase 2
669  BPGM; bisphosphoglycerate mutase
2023  ENO1; enolase 1
2026  ENO2; enolase 2
2027  ENO3; enolase 3
387712  ENO4; enolase 4
5313  PKLR; pyruvate kinase L/R
5315  PKM; pyruvate kinase M1/2
3939  LDHA; lactate dehydrogenase A
Variant
3939v1 (LDHA*)  LDHA deficiency
Metabolite
C00668  alpha-D-Glucose 6-phosphate
Reference
PMID:2334430
  Authors
Maekawa M, Sudo K, Kanno T, Li SS
  Title
Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
  Journal
Biochem Biophys Res Commun 168:677-82 (1990)
DOI:10.1016/0006-291X(90)92374-9
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