Use of Immunocytochemical Analysis of a Duodenal Biopsy Specimen to Identify a Carrier of Ornithine Transcarbamylase Deficiency

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Abstract
DEFICIENCY of ornithine transcarbamylase (OTC, or ornithine carbamoyltransferase [EC 2.1.3.3]), a urea-cycle enzyme located in the mitochondrial matrix, is one of the most frequently inherited causes of ammonia intoxication, with inheritance following an X-linked dominant pattern. Recently, prenatal diagnosis of OTC deficiency has been achieved with use of DNA restriction-fragment–length polymorphisms (RFLPs) at the OTC locus.1 , 2 However, correct identification of women who are carriers of OTC deficiency is essential for accurate prenatal diagnosis because RFLP analysis does not identify a specific mutation at the OTC locus.Carriers of OTC deficiency have been identified by measuring urinary excretion of orotic acid . . .