A specific enzyme defect in gyrate atrophy

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

Research output: Contribution to journalArticlepeer-review

Abstract

To establish the enzyme defect in gyrate atrophy, the authors measured the activity of ornithine aminotransferase in phytohemagglutinin stimulated lymphocytes in a patient with gyrate atrophy, her daughter, and three normal controls. The patient's cells had no detectable ornithine aminotransferase activity and the daughter's cells had 44% of control activity. This intermediate value is characteristic of an obligate heterozygote. These results are the first demonstration of an enzyme defect in gyrate atrophy.

Original languageEnglish (US)
Pages (from-to)200-204
Number of pages5
JournalAmerican journal of ophthalmology
Volume85
Issue number2
DOIs
StatePublished - Jan 1 1978
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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