KEGG   DISEASE: Combined malonic and methylmalonic aciduria
Entry
H02109                      Disease                                
Name
Combined malonic and methylmalonic aciduria
Description
Combined malonic and methylmalonic aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid and methylmalonic acid. Unlike classic phenotype of methylmalonic acidemia, malonyl-CoA decarboxylase activity is normal. Mutations in ACSF3 have been identified as a cause of CMAMMA. ACSF3 encodes an enzyme that catalyzes the initial reaction in intramitochondrial fatty acid synthesis.
Category
Inherited metabolic disorder
Brite
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
     H02109  Combined malonic and methylmalonic aciduria
Pathway
hsa00280  Valine, leucine and isoleucine degradation
hsa00061  Fatty acid biosynthesis
Gene
ACSF3 [HSA:197322] [KO:K18660]
Other DBs
ICD-11: 5C50.EY
ICD-10: E71.1
MeSH: C580002
OMIM: 614265
Reference
PMID:21841779
  Authors
Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP
  Title
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
  Journal
Nat Genet 43:883-6 (2011)
DOI:10.1038/ng.908
Reference
PMID:21785126
  Authors
Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melancon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N
  Title
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
  Journal
J Med Genet 48:602-5 (2011)
DOI:10.1136/jmedgenet-2011-100230
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