Fatal Clinical Course of Ornithine Transcarbamylase Deficiency in an Adult Heterozygous Female Patient
- 1 January 1997
- journal article
- case report
- Published by S. Karger AG in Digestion
- Vol. 58 (1) , 83-86
- https://doi.org/10.1159/000201428
Abstract
Ornithine transcarbamylase (OTC) deficiency is an X-linked inherited disease and the most common inborn error in urea synthesis in humans. In adult heterozygous patients, partial OTC deficiency can be responsible for life-threatening hyperammonemic coma, with a frequency of 15%. We report the clinical course of a heterozygous female patient and discuss the therapeutic options, including hemodialysis and continuous arteriovenous hemofiltration for reduction of ammonia levels as well as liver transplantation as a definitive therapy.Keywords
This publication has 0 references indexed in Scilit: