KEGG   DISEASE: Methylmalonic aciduria
Entry
H00174                      Disease                                

Name
Methylmalonic aciduria;
Methylmalonic acidemia
  Subgroup
Methylmalonic aciduria mut type
Methylmalonic aciduria cblA type
Methylmalonic aciduria cblB type
Methylmalonyl-CoA epimerase deficiency
Methylmalonic aciduria and homocystinuria [DS:H02221]
  Supergrp
Secondary hyperammonemia [DS:H01400]
Description
Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase (mut type), which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of MMA (cblA and cblB type).
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00174  Methylmalonic aciduria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00174  Methylmalonic aciduria
Related
pathway
hsa00280  Valine, leucine and isoleucine degradation
hsa00630  Glyoxylate and dicarboxylate metabolism
hsa00640  Propanoate metabolism
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00843  MMUT deficiency in propanoyl-CoA metabolism
N00844  MCEE deficiency in propanoyl-CoA metabolism
Gene
(mut) MUT [HSA:4594] [KO:K01847]
(cblA) MMAA [HSA:166785] [KO:K07588]
(cblB) MMAB [HSA:326625] [KO:K00798]
(MCE) MCEE [HSA:84693] [KO:K05606]
Other DBs
ICD-11: 5C50.E0
ICD-10: E71.1
MeSH: C565390 C537360 C537361
OMIM: 251000 251100 251110 251120
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)
DOI:10.1002/ajmg.c.30090
Reference
  Authors
Ogier de Baulny H, Saudubray JM
  Title
Branched-chain organic acidurias.
  Journal
Semin Neonatol 7:65-74 (2002)
DOI:10.1053/siny.2001.0087
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)
DOI:10.1002/humu.20373

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