Gyrate atrophy of the retina and choroid
✍ Scribed by James J. O'Donnell; Ilkka Sipilä; Antti Vannas; Robert Sandman; Kaarina Vannas-Sulonen
- Publisher
- Springer Netherlands
- Year
- 1981
- Tongue
- English
- Weight
- 463 KB
- Volume
- 4
- Category
- Article
- ISSN
- 0165-5701
No coin nor oath required. For personal study only.
✦ Synopsis
We report two methods for potential prenatal diagnosis of gyrate atrophy of the retina and choroid caused by an inborn error of ornithine aminotransferase activity. A high pressure liquid chromatography assay measures ornithine aminotransferase accurately and directly in cultured amniotic fluid cells. The differential incorporation of lgC-ornithine and 3H-leucine into cell protein measures OAT directly but rapidly and simply.
📜 SIMILAR VOLUMES
The activity of the enzyme 2',3'-cyclic nucleotide 3'-phosphohydrolase (CNPase, E.C.3.1.4.37) has been studied in the retina of three vertebrate species. Activity was highest in the goldfish, followed by Xenopus laevis and Rana pipiens. Also, high activity levels were found in goldfish retinal pigme