Der Ornithine-Aminotransferase-Mangel ist eine autosomal rezessive Erkrankung, die durch Mutationen des AOT-Gens ausgelöst wird. Sie manifestiert sich in zunehmender Nachtblindheit,die bis zu einer völligen Erblindung führen kann.
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3. |
Peltola KE et al. (2002) Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia. |
4. |
Kaiser-Kupfer MI et al. (2002) Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children. |
5. |
Caruso RC et al. (2001) Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement. |
6. |
Wang T et al. (2000) Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina. |
7. |
Valtonen M et al. (1999) Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia. |
8. |
Valtonen M et al. (1996) Skeletal muscle of patients with gyrate atrophy of the choroid and retina and hyperornithinaemia in ultralow-field magnetic resonance imaging and computed tomography. |
9. |
Wang T et al. (1995) Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration. |
10. |
Kaiser-Kupfer MI et al. (1980) Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by diet. |
11. |
Sipilä I et al. (1980) Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine. |
12. |
Kennaway NG et al. (1980) Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. |
13. |
Valle D et al. (1980) Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet. |
14. |
Sipilä I et al. (1981) Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics. |
15. |
Kaiser-Kupfer M et al. (1983) Cataract in gyrate atrophy: clinical and morphologic studies. |
16. |
Fukuda K et al. (1983) Free amino acid concentrations in blood cells of two brothers with gyrate atrophy of the choroid and retina with hyperornithinaemia. |
17. |
François J et al. (1966) [Apropos of gene carriers of Fuch's atrophia gyrata choroideae et retinae]. |
18. |
Brody LC et al. (1992) Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. |
19. |
Mitchell GA et al. (1988) An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. |
20. |
Barrett DJ et al. (1987) Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2. |
21. |
Valle D et al. (1977) Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. |
22. |
Sipilä I et al. (1979) Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle. |
23. |
O'Donnell JJ et al. (1978) Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase. |
24. |
Shih VE et al. (1978) Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. |
25. |
Stoppoloni G et al. (1978) Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case. |
26. |
Kennaway NG et al. (1977) Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts. |
27. |
Kennaway NG et al. (1989) Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6. |
28. |
Shih VE et al. (1988) Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina. |
29. |
Wirtz MK et al. (1985) Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina. |
30. |
Simell O et al. (1973) Raised plasma-ornithine and gyrate atrophy of the choroid and retina. |
31. |
Takki K et al. (1974) Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. |
32. |
McInnes RR et al. (1981) Hyperornithinaemia and gyrate atrophy of the retina: improvement of vision during treatment with a low-arginine diet. |
33. |
Orphanet article Orphanet ID 414 |
34. |
OMIM.ORG article Omim 258870 |