Carrier detection in ornithine transcarbamylase deficiency.
We 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.
D000293:Adolescent; D000328:Adult; D000375:Aging; D000641:Ammonia / Q000097:blood; D002648:Child; D004386:Duodenum / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000652:urine
D009963:Orotic Acid; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase