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Carrier detection in ornithine transcarbamylase deficiency
Author(s) -
Haan E. A.,
Danks D. M.,
Grimes A.,
Hoogenraad N. J.
Publication year - 1982
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799752
Subject(s) - orotic acid , ornithine transcarbamylase , ornithine transcarbamylase deficiency , heterozygote advantage , ornithine carbamoyltransferase , urine , excretion , medicine , endocrinology , ornithine , biology , biochemistry , amino acid , allele , urea cycle , gene , arginine
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.