KEGG   NETWORK: N00843
Entry
N00843                      Network                                

Name
MMUT deficiency in propanoyl-CoA metabolism
Definition
Propanoyl-CoA -- (PCCA+PCCB) >> MCEE >> MMUT*
  Expanded
C00100 -- (5095+5096) >> 84693 >> 4594v1
Class
nt06024 Valine, leucine and isoleucine degradation
Type
Variant
Disease
H00174  Methylmalonic aciduria
Gene
5095  PCCA; propionyl-CoA carboxylase subunit alpha
5096  PCCB; propionyl-CoA carboxylase subunit beta
84693  MCEE; methylmalonyl-CoA epimerase
4594  MMUT; methylmalonyl-CoA mutase
Variant
4594v1 (MMUT*)  MMUT deficiency
Metabolite
C00100  Propanoyl-CoA
Reference
PMID:1977311
  Authors
Jansen R, Ledley FD
  Title
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
  Journal
Am J Hum Genet 47:808-14 (1990)
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