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

D. Valle, M. I. Kaiser Kupfer, L. A. Del Valle

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)5159-5161
Number of pages3
JournalProceedings of the National Academy of Sciences of the United States of America
Volume74
Issue number11
DOIs
StatePublished - Jan 1 1977

ASJC Scopus subject areas

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