KEGG   DISEASE: マロニル-CoA脱炭酸酵素欠損症
エントリ  
H01283                                                             
名称    
マロニル-CoA脱炭酸酵素欠損症
概要    
Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive disease characterized by developmental delay, seizure, hypoglycemia, cardiomyopathy and malonic aciduria. Malonyl-CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis and is important in muscle and brain metabolism. Mutations in MLYCD gene that encodes MCD, result in a deficiency of MCD activity.
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
     H01283  マロニル-CoA脱炭酸酵素欠損症
パスウェイ 
hsa00410  beta-Alanine metabolism
hsa00640  Propanoate metabolism
hsa04146  Peroxisome
hsa04152  AMPK signaling pathway
病因遺伝子 
MLYCD [HSA:23417] [KO:K01578]
リンク   
ICD-11: 5C50.E1
MeSH: C535702
OMIM: 248360
文献    
  著者
FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J
  タイトル
The molecular basis of malonyl-CoA decarboxylase deficiency.
  雑誌
Am J Hum Genet 65:318-26 (1999)
DOI:10.1086/302492
文献    
  著者
Surendran S, Sacksteder KA, Gould SJ, Coldwell JG, Rady PL, Tyring SK, Matalon R
  タイトル
Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.
  雑誌
J Neurosci Res 65:591-4 (2001)
DOI:10.1002/jnr.1189
LinkDB    

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