Article
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
American journal of medical genetics - 20 Jan 1997
Ausems M G, Bakker E, Berger R, Duran M, van Diggelen O P, Keulemans J L, de Valk H W, Kneppers A L, Dorland L, Eskes P F, Beemer F A, Poll-The B T, Smeitink J A
Abstract excerpt
We describe a 4-generation family in which a previously healthy 10-year-old boy died of late-onset ornithine transcarbamylase (OTC) deficiency. Pedigree analysis and allopurinol loading tests in female relatives were not informative. A missense mutation (A208T) in the OTC gene was detected in the...
Topics
- Adult
- Aged
- Allopurinol
- Autopsy
- Biopsy
- Child
- Child, Preschool
- Female
- Glutamine
- Heterozygote
- Humans
- Liver
- Male
- Mutation
- Ornithine Carbamoyltransferase