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Case Reports
. 1977 Nov;74(11):5159-61.
doi: 10.1073/pnas.74.11.5159.

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes

D Valle, M I Kaiser-Kupfer, L A Del Valle
Case Reports

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes

D Valle et al. Proc Natl Acad Sci U S A. 1977 Nov.

Abstract

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.

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References

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