title: Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
abstract: Gyrate atrophy of the choroid and retina is a chorioretinal degeneration associated with hyperornithinemia with an autosomal recessive mode of inheritance. Cultured skin fibroblasts from five affected patients showed a virtual absence of ornithine ketoacid transaminase (OKT) (L-ornithine:2-oxoacid aminotransferase E.C.2.6.1.13) activity. Fibroblasts from four carrier parents showed a 42%-65% reduction in OKT activity. Increasing the concentration of pyridoxal phosphate (vitamin B6 in the assay media resulted in partial restoration of OKT activity in fibroblasts from one out of five patients studied. We conclude that OKT deficiency is closely associated with the genetic defect in gyrate atrophy of the choroid and retina and that genetic heterogeneity exists in this disease.
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002478:Cells, Cultured; D002648:Child; D002829:Choroid / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D009952:Ornithine / Q000378:metabolism; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency* / Q000235:genetics; D011732:Pyridoxal Phosphate / Q000494:pharmacology; D012162:Retinal Degeneration / Q000201:enzymology / Q000235:genetics*; D012867:Skin / Q000201:enzymology; D013577:Syndrome; D000637:Transaminases / Q000172:deficiency*
chemical_list: D011732:Pyridoxal Phosphate; D009952:Ornithine; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase