Detection of kinetically abnormal argininosuccinate synthase in neonatal citrullinemia by conversion of citrulline to arginine in intact fibroblasts.

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Ben-Yoseph Y, Mitchell DA

Detection of kinetically abnormal argininosuccinate synthase in neonatal citrullinemia by conversion of citrulline to arginine in intact fibroblasts.

Clin Chim Acta. 1989 Aug 15;183(2):125-33.

PubMed ID
2791302 [ View in PubMed
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Abstract

The apparent Km values of argininosuccinate synthase toward citrulline and aspartate were significantly increased in cultured skin fibroblasts from one patient with neonatal citrullinemia, whereas, those determined in cells from three other patients were within the normal range. The abnormal apparent Km of the mutant enzyme toward aspartate was determined by a ureagenesis assay system (0.14 mmol/l as compared with 0.010-0.018 mmol/l for the normal enzyme), and the abnormal values toward citrulline were measured by both arginine synthesis (6.1 mmol/l as compared with 0.21-0.26 mmol/l for the normal enzyme) and ureagenesis (0.63 as compared with 0.043-0.067) assay systems.

DrugBank Data that Cites this Article

Drug Targets
DrugTargetKindOrganismPharmacological ActionActions
Aspartic acidArgininosuccinate synthaseProteinHumans
Unknown
Not AvailableDetails