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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.
V E Shih, and
E L Berson, and
R Mandell, and
S Y Schmidt
September 1978,
International ophthalmology,
V E Shih, and
E L Berson, and
R Mandell, and
S Y Schmidt
January 1982,
Advances in experimental medicine and biology,
V E Shih, and
E L Berson, and
R Mandell, and
S Y Schmidt
September 1977,
Clinica chimica acta; international journal of clinical chemistry,
V E Shih, and
E L Berson, and
R Mandell, and
S Y Schmidt
November 1977,
The New England journal of medicine,
V E Shih, and
E L Berson, and
R Mandell, and
S Y Schmidt
November 1977,
Proceedings of the National Academy of Sciences of the United States of America,
V E Shih, and
E L Berson, and
R Mandell, and
S Y Schmidt
May 1973,
Lancet (London, England),
V E Shih, and
E L Berson, and
R Mandell, and
S Y Schmidt
February 1991,
Molecular biology & medicine,
V E Shih, and
E L Berson, and
R Mandell, and
S Y Schmidt
August 1980,
Nippon Ganka Gakkai zasshi,
V E Shih, and
E L Berson, and
R Mandell, and
S Y Schmidt
June 1981,
Clinica chimica acta; international journal of clinical chemistry,
V E Shih, and
E L Berson, and
R Mandell, and
S Y Schmidt
September 1947,
American journal of ophthalmology,
