KEGG   NETWORK: N00853
Entry
N00853                      Network                                

Name
ALDH6A1 deficiency in valine degradation
Definition
IB-CoA -- (ACADS,ACAD8,ACADM) >> (ECHS1,HADHA) >> HIBCH >> (HIBADH,HADH) >> ALDH6A1*
  Expanded
C00630 -- (35,27034,34) >> (1892,3030) >> 26275 >> (11112,3033) >> 4329v1
Class
nt06024 Valine, leucine and isoleucine degradation
Type
Variant
Disease
H02285  Methylmalonate semialdehyde dehydrogenase deficiency
Gene
35  ACADS; acyl-CoA dehydrogenase short chain
27034  ACAD8; acyl-CoA dehydrogenase family member 8
34  ACADM; acyl-CoA dehydrogenase medium chain
1892  ECHS1; enoyl-CoA hydratase, short chain 1
3030  HADHA; hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
26275  HIBCH; 3-hydroxyisobutyryl-CoA hydrolase
11112  HIBADH; 3-hydroxyisobutyrate dehydrogenase
3033  HADH; hydroxyacyl-CoA dehydrogenase
4329  ALDH6A1; aldehyde dehydrogenase 6 family member A1
Variant
4329v1 (ALDH6A1*)  ALDH6A1 deficiency
Metabolite
C00630  Isobutyryl-CoA
Reference
  Authors
Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM
  Title
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.
  Journal
J Inherit Metab Dis 23:497-504 (2000)
DOI:10.1023/A:1005616315087
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