Article
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.
Journal of inherited metabolic disease - 1 Aug 1997
Vella S, Steiner F, Schlumbom V, Zurbrügg R, Wiesmann U N, Schaffner T, Wermuth B
Abstract excerpt
Ornithine transcarbamylase deficiency shows X-linked inheritance with partial dominant expression in carrier females. We studied a girl with intermittent severe orotic aciduria and mild hyperammonaemia despite apparently normal enzyme activity in the liver. Sequence analysis of all 10 exons of th...
Topics
- Ammonia
- Child
- Female
- Humans
- Infant
- Kinetics
- Liver
- Microscopy, Electron
- Mitochondria, Liver
- Mutation
- Ornithine Carbamoyltransferase
- Orotic Acid
- Polymerase Chain Reaction
- Proteins