title: Congenital hyperammonemia: symptomatic carrier girl patient and her asymptomatic heterozygous mother for ornithine transcarbamylase (OTC) deficiency: specific enzyme diagnostic and kinetic investigations for the detection of heterozygous genostatus.
abstract: 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.
authors.affiliation: Department of Pediatrics, A. Szentgyörgyi Medical University, Szeged, Hungary.
authors.forename: A
authors.initials: A
authors.lastname: László
authors.forename: T
authors.initials: T
authors.lastname: Karsai
authors.forename: A
authors.initials: A
authors.lastname: Várkonyi
mesh_terms: D000641:Ammonia / Q000097:blood*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007700:Kinetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease
chemical_list: D000641:Ammonia