Open AccessGyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.
Author(s) -
David Valle,
M I Kaiser-Kupfer,
Luis A. Del Valle
Publication year - 1977
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.74.11.5159
Subject(s) - ornithine aminotransferase , choroid , ornithine , retina , atrophy , heterozygote advantage , medicine , endocrinology , biology , biochemistry , amino acid , arginine , neuroscience , allele , gene
Gyrate atrophy of the choroid and retina is an inherited form of chorioretinal degeneration associated with hyperornithinemia. We measured the activity of ornithine aminotransferase (L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) in phytohemagglutinin-stimulated lymphocytes of a patient with gyrate atrophy and her daughter. The patient's cells had no detectable ornithine aminotransferase activity, and the activity in the heterozygote's cells was 44% of normal values. Measurements of [3H]thymidine incorporation and other transformation-affected enzymes verified that the patient's cells were transformed. These results demonstrate an enzyme deficiency in gyrate atrophy.