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The authors analyzed the heterogeneous distribution of hepatic argininosuccinate synthetase of type II citrullinemia in reference to its specificity and clinical implications. The low content of the enzyme in the liver of type II citrullinemic patients is associated with two kinds of the enzyme distribution that can be visualized by means of an(More)
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(More)
Human argininosuccinate synthetase (ASS) activity was found to be inactivated by alpha-dicarbonyls such as 1,2-cyclohexanedione and phenylglyoxal in accordance with pseudo first-order kinetics. The enzyme was almost completely protected from this inactivation by Mg-ATP and partially by its analogues. The strongest protective effect against inactivation was(More)
Our preliminary data suggest that HPL was present in the largest quantity in chorionic villi of 16-18 weeks of pregnancy but the concentration of HPL in mother blood was maximum at 30-40 weeks of pregnancy. To clarify the discrepancy of term of those maximum values, the following experiments were done. The immuno-precipitate caused by the reaction with(More)
The translation activity of mRNA coding for argininosuccinate synthetase in total RNA extracted from the liver of three patients with quantitative-type citrullinemia was determined using a cell-free translation system. In two patients, the hepatic content of the enzyme was about 20% of the control value, whereas translatable mRNA level for the enzyme was(More)
The enzyme defects in two cases of argininosuccinic aciduria were examined at the molecular level by enzymatic and immunological methods. No argininosuccinate lyase activity was detected in the liver or erythrocytes of either patient nor in the kidney or brain of one of the patients even in the presence of high concentrations of the substrate. The titration(More)
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