doi: 10.1007/BF01799752.
Carrier detection in ornithine transcarbamylase deficiency
- PMID: 6820412
- DOI: 10.1007/BF01799752
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Carrier detection in ornithine transcarbamylase deficiency
J Inherit Metab Dis.
1982.
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.
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