KEGG   DISEASE: マロン酸およびメチルマロン酸尿合併症
エントリ  
H02109                                                             
名称    
マロン酸およびメチルマロン酸尿合併症
概要    
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.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C50  アミノ酸または他の有機酸代謝の先天性異常
     H02109  マロン酸およびメチルマロン酸尿合併症
パスウェイ 
hsa00280  Valine, leucine and isoleucine degradation
hsa00061  Fatty acid biosynthesis
病因遺伝子 
ACSF3 [HSA:197322] [KO:K18660]
リンク   
ICD-11: 5C50.EY
MeSH: C580002
OMIM: 614265
文献    
PMID:21841779
  著者
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
  タイトル
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
  雑誌
Nat Genet 43:883-6 (2011)
DOI:10.1038/ng.908
文献    
PMID:21785126
  著者
Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melancon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N
  タイトル
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
  雑誌
J Med Genet 48:602-5 (2011)
DOI:10.1136/jmedgenet-2011-100230
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