Ornithine Transcarbamylase Deficiency: Genetics
Published Online: 16 JUL 2007
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Azevedo, L. and Amorim, A. 2007. Ornithine Transcarbamylase Deficiency: Genetics. eLS. .
- Published Online: 16 JUL 2007
Ornithine transcarbamylase deficiency, the most common urea cycle disorder, is an X-linked trait displaying large phenotypic heterogeneity, which includes cases of symptomatic heterozygotes and wide mutational spectrum. Moreover, de novo mutations are common, particularly in the male gametogenesis, being responsible for as much as three-fourth of female abnormal chromosomes. Recurrent mutations found in different human populations are associated with hypermutable CpG dinucleotides. These features render diagnosis, genetic counselling and treatment particularly difficult. The responsible gene is, however, an excellent model for research on human mutation, due to (a) the mode of transmission (allowing direct haplotype ascertainment and evaluation of the role of recombination, which occurs only in females) and (b) the abundance and diversity of mutations. Treatment strategies involve reduction of protein level intake and stimulation of alternative metabolic pathways or liver transplantation.
- ornithine transcarbamylase (OTC);