Gyrate Atrophy (Ornithine Aminotransferase Deficiency)
Autoszomális recesszív
A metabolic condition caused by changes in both copies of the OAT gene, leading to raised ornithine and progressive patches of chorioretinal atrophy.
Mit változtat a diagnózis
An arginine-restricted diet, and vitamin B6 in responsive people, can lower ornithine and slow retinal degeneration.
Vizsgált gének
Más néven
Fuchs atrophia gyrata chorioideae et retinae; Fuchs gyrate atrophy; Fuchs gyrate atrophy of the choroid and retina; GACR; Girate atrophy of the retina; gyrate atrophy; gyrate atrophy of choroid and retina; gyrate atrophy of choroid and retina with or without ornithinemia; HOGA; hyperornithinemia; hyperornithinemia with gyrate atrophy of choroid and retina; hyperornithinemia-gyrate atrophy of choroid and retina syndrome; OAT deficiency; OKT deficiency; ornithine ketoacid aminotransferase deficiency; Ornithinemia
