KEGG   DISEASE: LCHAD 欠損症
エントリ  
H00489                                                             
名称    
LCHAD 欠損症;
長鎖 3-ヒドロキシアシル CoA 脱水素酵素欠損症
  上位グループ
三頭酵素欠損症 [DS:H01352]
ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
二次性高アンモニア血症 [DS:H01400]
ミトコンドリア病 [DS:H01427]
概要    
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. It is characterized by hypo-ketotic hypoglycemia, vomiting, lethargy, hypotonia, and hepatomegaly. In addition, patients may present with cardiomyopathy, peripheral neuropathy, retinopathy, seizures, coma, and sudden infant death (SIDS). Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a LCHAD deficiency.
カテゴリ  
先天性代謝異常症, ミトコンドリア病
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
     H00489  LCHAD 欠損症
パスウェイに基づく疾患分類 [BR:jp08402]
 脂質・糖脂質代謝
  nt06020  ミトコンドリアでのβ酸化
   H00489  LCHAD 欠損症
パスウェイ 
hsa00071  Fatty acid degradation
ネットワーク
nt06020 beta-Oxidation in mitochondria
病因遺伝子 
HADHA [HSA:3030] [KO:K07515]
リンク   
ICD-11: 5C52.01
MeSH: C566945
OMIM: 609016
文献    
  著者
Baskin B, Geraghty M, Ray PN
  タイトル
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
  雑誌
Am J Med Genet A 152A:1808-11 (2010)
DOI:10.1002/ajmg.a.33462
文献    
  著者
Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW
  タイトル
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
  雑誌
N Engl J Med 340:1723-31 (1999)
DOI:10.1056/NEJM199906033402204
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