アルギノコハク酸合成酵素の活性低下を認めた成人型高シトルリン血症の一剖検例

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  • A autopsied case of hypercitrullinemia in adult caused by partial deficiency of livcr arginosuccinate synthetase
  • アルギノコハクサン ゴウセイ コウソ ノ カッセイ テイカ オ ミトメタ セイ

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A case of 46 year-old man with recurrent episodes of disturbed consciousness, slight abnormality of liver function tests and hyperammonemia was presented. The portosystemic shunt was not revealed by celiac angiography and hepatic venography. Plasma aminogram showed that citrulline increased 12 time more than that of normal value, with increased glutamic acid, arginine and ornithine. To elucidate the pathogeneSis of hypercitrullillemia, the abnormality of arginosuccinate synthetase(ASS)in autopsied sample of the patient liver was studied. The ASS activity Showed 2 percent of that in normal liver, while the other four urea cycle enzymes were all normal. Immunological determination of the ASS activity showed also marked decrease. However the kinetical abnormality of the ASS was not fbund. Hepatic fibrosis with slight fatty change, cerebral atrophy and statu spongiosus associated with Alzheimer's glia type II were found in necropsy, which wa considered to be psedulegyric type (Shiraki) of hepatocercbral diseases.

収録刊行物

  • 肝臓

    肝臓 21 (3), 326-334, 1980

    一般社団法人　日本肝臓学会

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