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.

A. László, T. Karsai, A. Várkonyi

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2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)291-297
Number of pages7
JournalActa Paediatrica Hungarica
Volume31
Issue number3
Publication statusPublished - 1991

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Ornithine Carbamoyltransferase Deficiency Disease
Ornithine Carbamoyltransferase
Hyperammonemia
Succinic Acid
Ligases
Arginine
Leukocytes
Parents
Mothers
Carbamyl Phosphate
Arginase
Lyases
Liver
Enzymes
Fathers
Erythrocytes
Biopsy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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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.",
author = "A. L{\'a}szl{\'o} and T. Karsai and A. V{\'a}rkonyi",
year = "1991",
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T2 - 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.

AU - László, A.

AU - Karsai, T.

AU - Várkonyi, A.

PY - 1991

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AB - 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.

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