成人型先天性高アンモニア血症

DOI Web Site Web Site

書誌事項

タイトル別名
  • Inherited hyperammonemia in adults
  • セイヒトガタ センテンセイ コウ アンモニア ケッショウ

この論文をさがす

抄録

Two adult cases with hyperammonemia and recurrent episodes of disturbance of consciousness were reported. <BR>Both cases were 23 year-old men. Physical and histological examination showed no apparent sign of chronic liver diseases. Laboratory examination revelaed high blood ammonia level and low blood urea nitrogen level. In electroencephalogram slow waves were dominant. Portal venography did not reveal a portal-systemic shunt. Ammonia tolerance test was abnormal and urinary excretion of urea decreased. Analysis of serum free amino acids in case 1 showed that citrulline slightly decreased and glutamic acid increased. In case 2 citrulline increased 10 time more than normla value. <BR>These data strongly suggest that case 1 and 2 are belonged to inherited hyperammonemia probably through partial deficiency of ornithine carbamolytransferase and argininosuccinate synthetase respectively.

収録刊行物

  • 肝臓

    肝臓 18 (11), 856-863, 1977

    一般社団法人　日本肝臓学会

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ