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Carrier detection in ornithine transcarbamylase deficiency |
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| Authors: | E. A. Haan D. M. Danks A. Grimes N. J. Hoogenraad |
| Affiliation: | (1) Department of Pediatrics, University of Melbourne, Genetics Research Unit, Royal Children's Hospital, Flemington Road, 3052 Parkville, Australia;(2) Department of Biochemistry, La Trobe University, Victoria, Australia |
| 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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