KEGG   DISEASE: HHH症候群
エントリ  
H01268                                                             
名称    
HHH症候群;
高オルニチン血症・高アンモニア血症・ホモシトルリン尿症
  上位グループ
尿素サイクル異常症 [DS:H01398]
概要    
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder, characterized by mental retardation, progressive spastic paraparesis, seizures, and myoclonus epilepsy. This disease varies widely in its severity and age of onset. The HHH syndrome is thought to be caused by the defective activities of the mitochondrial carrier responsible for transporting ornithine from the cytoplasm into the inner mitochondrial membrane. Mutations in the SLC25A15 gene, that encodes the mitochondrial ornithine transporter have been shown to be correlated with the HHH syndrome.
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
     H01268  HHH症候群
病因遺伝子 
SLC25A15 [HSA:10166] [KO:K15101]
リンク   
ICD-11: 5C50.AY
MeSH: C538380
OMIM: 238970
文献    
  著者
Wang JF, Chou KC
  タイトル
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
  雑誌
PLoS One 7:e31048 (2012)
DOI:10.1371/journal.pone.0031048
文献    
  著者
Camacho J, Rioseco-Camacho N
  タイトル
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
  雑誌
GeneReviews (1993)
LinkDB    

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