KEGG   DISEASE: H00174Help
Entry
H00174                      Disease                                
Name
Methylmalonic aciduria (MMA)
Description
Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase, which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of MMA.
Category
Inherited metabolic disease; Nervous system disease
BRITE hierarchy
Pathway
Valine, leucine and isoleucine degradation
Glyoxylate and dicarboxylate metabolism
Propanoate metabolism
Gene
MUT; methylmalonyl-CoA mutase [HSA:4594] [KO:K01847]
MMAA [HSA:166785] [KO:K07588]
MMAB [HSA:326625] [KO:K00798]
LMBRD1 [HSA:55788] [KO:K14617]
MMACHC [HSA:25974] [KO:K14618]
MMADHC [HSA:27249]
MCEE [HSA:84693] [KO:K05606]
Marker
(blood and urine) Methylmalonic acid [CPD:C02170]
(urine) Propanoic acid [CPD:C00163], 3-Hydroxypropionic acid [CPD:C01013]
(blood) Propionylcarnitine [CPD:C03017]
Acylcarnitine [CPD:C02301]
Drug
Vitamin B12 [DR:D00191]
Other DBs
Reference
  Authors
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C
  Title
Methylmalonic and propionic aciduria.
  Journal
Am J Med Genet C Semin Med Genet 142C:104-12 (2006)
Reference
  Authors
Ogier de Baulny H, Saudubray JM
  Title
Branched-chain organic acidurias.
  Journal
Semin Neonatol 7:65-74 (2002)
Reference
  Authors
Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M
  Title
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
  Journal
Hum Mutat 27:640-3 (2006)

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