László A, Karsai T, Várkonyi A
Department of Pediatrics, A. Szentgyörgyi Medical University, Szeged, Hungary.
Acta Paediatr Hung. 1991;31(3):291-7.
Activities of the specific enzymes of the inherited hyperammonemic syndromes (carbamoyl-phosphate synthetase CPS), ornithine transcarbamylase (OTC), arginine-succinate-synthetase (ASS), arginine-succinate-lyase (ASL) and arginase (ASE) were measured in a liver biopsy specimen of a 2 years-old girl suffering from chronic hyperammonemia and in the erythrocyte- and leukocyte-homogenisate of her parents. The activity of OTC in liver homogenisate of the patient was 62.9 percent; in the leukocytes of the parents it was 78.5 percent (in mother) and 102 per cent (in the father) as compared to the controls. Our patient proved to be a symptomatic carrier of OTC deficiency and her mother proved to be an asymptomatic carrier.
在一名患有慢性高氨血症的2岁女孩的肝脏活检标本以及其父母的红细胞和白细胞匀浆中，测定了遗传性高氨血症综合征（氨甲酰磷酸合成酶CPS）、鸟氨酸转氨甲酰酶（OTC）、精氨酸琥珀酸合成酶（ASS）、精氨酸琥珀酸裂解酶（ASL）和精氨酸酶（ASE）等特定酶的活性。患者肝脏匀浆中OTC的活性为62.9%；与对照组相比，其父母白细胞中OTC的活性，母亲为78.5%，父亲为102%。我们的患者被证明是OTC缺乏的症状携带者，其母亲被证明是无症状携带者。
