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 patients, in some male patients the disease first becomes overt in adolescence or during the reproductive age period. In the...
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