Carrier detection in ornithine transcarbamylase deficiency
Copyright policy )Carrier detection in ornithine transcarbamylase deficiency
AbstractWe have studied six known heterozygotes for ornithine transcarbamylase (McKusick 31125; OTC) deficiency. All had abnormal results when tested by measurement of urine orotic acid after protein loading. Duodenal mucosa OTC assay detected fewer of the known heterozygotes but was a useful supplementary test. Urine orotic acid excretion after protein loading is influenced by age and results from women being tested must be compared with those from controls of appropriate age.
- La Trobe University Australia
- Royal Children's Hospital Australia
- University of Melbourne Australia
Adult, Orotic Acid, Aging, Adolescent, Duodenum, Genetic Carrier Screening, Ornithine Carbamoyltransferase Deficiency Disease, Ammonia, Humans, Female, Child, Ornithine Carbamoyltransferase
Adult, Orotic Acid, Aging, Adolescent, Duodenum, Genetic Carrier Screening, Ornithine Carbamoyltransferase Deficiency Disease, Ammonia, Humans, Female, Child, Ornithine Carbamoyltransferase
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