Carrier Detection in Ornithine Transcarbamylase Deficiency

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1982 Jan 1

PMID 6820412

Citations 7

Authors

E A Haan

D M Danks

A Grimes

N J Hoogenraad

Affiliations

Soon will be listed here.

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.

Citing Articles

Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium.

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How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?.

Grunewald S, Fairbanks L, Genet S, Cranston T, Husing J, Leonard J J Inherit Metab Dis. 2004; 27(2):179-86.

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Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes.

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Ornithine carbamoyl transferase deficiency: a neuropathological study.

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Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.

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