Abstract
Extract: We have described a patient with ornithine transcarbamylase (OTC) deficiency. The clinical course and pedigree substantiate the X-linked transmission of the defect with varying degrees of illness in females. Because orotic aciduria accompanied hyperammonemia in the patient, orotic acid was measured as an indication of a partial OTG deficiency after ammonia and protein loading in members of the patient's family. Both the mother, an obligate carrier, and an aunt, the only symptomatic female in this pedigree, had hyperammonemia after the ingestion of ammonium chloride. They also had significant orotic aciduria after a protein load as did the two female cousins whose ammonium tolerance was normal. The maternal grandmother excreted a large amount of orotic acid in her urine relatively consistently. These data suggest that the two female cousins and the maternal grandmother are asymptomatic female heterozygotes despite their normal ammonium loading tests.
Speculation: Protein loading in the form of a relatively palatable and innocuous meal, followed by determination of orotic acid content in urine, may prove to be a sensitive, noninvasive, and easy means to identify female carriers of ornithine transcarbamylase deficiency.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Goldstein, A., Hoogenraad, N., Johnson, J. et al. Metabolic and Genetic Studies of a Family with Ornithine Transcarbamylase Deficiency. Pediatr Res 8, 5–12 (1974). https://doi.org/10.1203/00006450-197401000-00002
Issue Date:
DOI: https://doi.org/10.1203/00006450-197401000-00002
Keywords
This article is cited by
-
Homocitrullinuria and homoargininuria in lysinuric protein intolerance
Journal of Inherited Metabolic Disease (1989)
-
DNA analysis of ornithine transcarbamylase deficiency
European Journal of Pediatrics (1988)
-
Pyroglutamic acid as a marker of increased orotic acid
Journal of Inherited Metabolic Disease (1987)
-
Increased urinary excretion of putrescine in hyperargininaemia
Journal of Inherited Metabolic Disease (1987)
-
Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency
Virchows Archiv A Pathological Anatomy and Histopathology (1985)