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- W2024706606 abstract "OYANAGI, K., ITAKURA, Y., TSUCHIYAMA, A., NAKAO, T., NAKANO, K. and SAEKI, T. Citrullinemia: Quantitative Deficiency of Argininosuccinate Synthetase in the Liver. Tohoku J. exp. Med., 1986, 148 (4), 385-391-Two cases of citrullinemia were reported. Case 1 was an one month old female. Her clinical course and findings were different from the fluminant type of neonatal citrullinemia reported in predominantly Caucasian countries. Our patient was well controlled under a low protein diet and essential amino acids till 9 months of age, but unfortunately she died of Reye's like syndrome. Case 2 was 31 year old male (at the time of death). He was admitted to our hospital because of hyperammonemia and mental retardation. By subsequent laboratory investigations he was diagnosed as having adult type of citrullinemia and died of hepatoma. Enzymological analysis revealed that argininosuccinate synthetase (ASS) activities in the liver tissues of the patients decreased to 40% (Case 1), 20% (Case 2) compared with those in control liver tissues. The other urea cycle enzyme activities were all within normal range. ASS activities in the kidney and brains of the two cases were within normal range. The kinetic constant values of ASS for three substrates in the tissues of liver and kidney were all normal. Results of immunochemical analyses indicated that citrullinemia in our patients was caused by a quantitative deficiency of ASS associated proteins of the liver and kidney tissues as to the molecular weight." @default.
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- W2024706606 date "1986-01-01" @default.
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- W2024706606 title "Citrullinemia: Quantitative deficiency of argininosuccinate synthetase in the liver." @default.
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- W2024706606 doi "https://doi.org/10.1620/tjem.148.385" @default.
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