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1980•Journal of Inherited Metabolic DiseaseRequires access

Carrier detection in ornithine transcarbamylase deficiency

Eric Haan, David M. Danks, Andrew Grimes, Nicholas J. Hoogenraad

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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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What this paper is about

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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OpenAlex reports 22 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available 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.

Key concepts: Orotic acid, Ornithine transcarbamylase, Ornithine transcarbamylase deficiency, Heterozygote advantage, Ornithine Carbamoyltransferase, Urine, Excretion, Internal medicine

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