A specific enzyme defect in gyrate atrophy.

Abstract:

:To establish the enzyme defect in gyrate atrophy, we 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.

journal_name

Am J Ophthalmol

authors

Kaiser-Kupfer MI,Valle D,Del Valle LA

doi

10.1016/s0002-9394(14)75948-3

subject

Has Abstract

pub_date

1978-02-01 00:00:00

pages

200-4

issue

2

eissn

0002-9394

issn

1879-1891

pii

S0002-9394(14)75948-3

journal_volume

85

pub_type

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