KEGG   DISEASE: MHBD 欠損症
エントリ  
H00925                                                             
名称    
MHBD 欠損症;
HSD10 ミトコンドリア病
概要    
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a recently described X-linked inborn error in the metabolism of isoleucine. This disorder is characterized by normal early development followed by progressive loss of mental and motor skills.
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
    5C52  脂質代謝の先天性異常
     H00925  MHBD 欠損症
パスウェイに基づく疾患分類 [BR:jp08402]
 アミノ酸代謝
  nt06024  バリン、ロイシン、イソロイシンの分解
   H00925  MHBD 欠損症
パスウェイ 
hsa00280  Valine, leucine and isoleucine degradation
ネットワーク
nt06024 Valine, leucine and isoleucine degradation
病因遺伝子 
HSD17B10 [HSA:3028] [KO:K08683]
コメント  
Syndromic X-linked mental retardation (H00658) is also caused by mutation in the HSD17B10 gene. See also H00658.
リンク   
ICD-11: 5C52.01
ICD-10: E71.3
MeSH: C536080
OMIM: 300438
文献    
PMID:16148061
  著者
Perez-Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A
  タイトル
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
  雑誌
Pediatr Res 58:488-91 (2005)
DOI:10.1203/01.pdr.0000176916.94328.cd
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