TY - JOUR
T1 - A specific enzyme defect in gyrate atrophy
AU - Kaiser-Kupfer, M. I.
AU - Valle, D.
AU - Del Valle, L. A.
PY - 1978
Y1 - 1978
N2 - 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.
AB - 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.
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U2 - 10.1016/S0002-9394(14)75948-3
DO - 10.1016/S0002-9394(14)75948-3
M3 - Article
C2 - 623190
AN - SCOPUS:0017838945
SN - 0002-9394
VL - 85
SP - 200
EP - 204
JO - American journal of ophthalmology
JF - American journal of ophthalmology
IS - 2
ER -