Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan

  title={Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan},
  author={Takeyori Saheki and Kyoko Nakano and Keiko Kobayashi and Yasutada Imamura and Yukihiro Itakura and Mariko Sase and Seiya Hagihara and S. Matuo},
  journal={Journal of Inherited Metabolic Disease},
Citrullinaemia (McKusick 21570), first described by McMurray et al. (1962), is a relatively rare inherited metabolic disease of the urea cycle caused by a deficient activity of argininosuccinate synthetase (EC (ASS). In Japan many cases of adult (20-50 years old) citrullinaemic patients have been reported. We have already analyzed the enzyme abnormalities in 28 of the adult patients and classified them into two types, qualitative and quantitative (Saheki et al., 1981, 1983… CONTINUE READING
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