Article
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.
Human genetics - 1 Jan 1990
Pelet A, Rotig A, Bonaïti-Pellié C, Rabier D, Cormier V, Toumas E, Hentzen D, Saudubray J M, Munnich A
Abstract excerpt
Ornithine transcarbamylase (OTC) deficiency is an X-linked disease responsible for lethal neonatal hyperammonemia in males. Partial OTC deficiency also occurs in females and can be responsible for life-threatening hyperammonemic comas in heterozygotes (15%). Increased orotic acid excretion occurs...
Topics
- Bayes Theorem
- Female
- Genetic Carrier Screening
- Genetic Linkage
- Humans
- Male
- Mutation
- Ornithine Carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- Orotic Acid
- Pedigree
- X Chromosome