Article
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.
Nature genetics - 1 Oct 1995
Wang T, Lawler A M, Steel G, Sipila I, Milam A H, Valle D
Abstract excerpt
Deficiency of ornithine-delta-aminotransferase (OAT) in humans causes hyperornithinaemia and gyrate atrophy (GA), a blinding chorioretinal degeneration. Surprisingly, OAT-deficient mice produced by gene targeting exhibit neonatal hypoornithinaemia and lethality, rescuable by short-term arginine s...
Topics
- Adult
- Amino Acid Metabolism, Inborn Errors
- Animals
- Animals, Newborn
- Arginine
- Base Sequence
- DNA Primers
- Food, Fortified
- Genotype
- Gyrate Atrophy
- Humans
- Infant
- Lysine
- Mammals
- Mice
- Mice, Mutant Strains
- Molecular Sequence Data
- Ornithine