A specific enzyme defect in gyrate atrophy

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

Research output: Contribution to journalArticle

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
StatePublished - 1978
Externally publishedYes

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Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
Nuclear Family
Enzymes
Phytohemagglutinins
Heterozygote
Lymphocytes

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Kaiser-Kupfer, M. I., Valle, D., & Del Valle, L. A. (1978). A specific enzyme defect in gyrate atrophy. American Journal of Ophthalmology, 85(2), 200-204.

A specific enzyme defect in gyrate atrophy. / Kaiser-Kupfer, M. I.; Valle, David; Del Valle, L. A.

In: American Journal of Ophthalmology, Vol. 85, No. 2, 1978, p. 200-204.

Research output: Contribution to journalArticle

Kaiser-Kupfer, MI, Valle, D & Del Valle, LA 1978, 'A specific enzyme defect in gyrate atrophy', American Journal of Ophthalmology, vol. 85, no. 2, pp. 200-204.
Kaiser-Kupfer, M. I. ; Valle, David ; Del Valle, L. A. / A specific enzyme defect in gyrate atrophy. In: American Journal of Ophthalmology. 1978 ; Vol. 85, No. 2. pp. 200-204.
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