Gyrate Atrophy of the Choroid and Retina: Deficiency of Ornithine Aminotransferase in Transformed Lymphocytes

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1977 Nov 1

PMID 270753

Citations 36

Authors

D Valle

L A Del Valle

Affiliations

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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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