Ornithine Transcarbamylase Deficiency - Genetics

Genetics

Ornithine transcarbamylase deficiency is an X-linked recessive disorder caused by a number of different mutations in the OTC gene. Since the gene is on the X chromosome, females are primarily carriers while males with nonconservative mutations rarely survive past 72 hours of birth. Half of those survivors die in the first month, and half of the remaining by age 5. Prognosis is less clear in cases of adult onset OTCD, as detection of the disease is almost universally post symptomatic.