Article
The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients.
Human genetics - 1 Feb 1997
Nishiyori A, Yoshino M, Kato H, Matsuura T, Hoshide R, Matsuda I, Kuno T, Miyazaki S, Hirose S, Kuromaru R, Mori M
Abstract excerpt
Ornithine transcarbamylase (OTC) deficiency is an X-linked trait and is one of the most frequent of the inherited urea cycle enzyme deficiencies. Most male patients with OTC deficiency develop a hyperammonemic crisis and die in the neonatal period or in early infancy. In contrast to those patient...
Topics
- Adolescent
- Adult
- Age of Onset
- Animals
- COS Cells
- Child
- DNA Mutational Analysis
- Humans
- Male
- Middle Aged
- Mutation
- Ornithine Carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- Pedigree
- RNA, Messenger
- Transfection