Carrier detection in ornithine transcarbamylase deficiency
- 24 October 1980
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 5 (1), 37-40
- https://doi.org/10.1007/bf01799752
Abstract
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.Keywords
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