TY - JOUR
T1 - Gyrate atrophy of the choroid and retina
T2 - Deficiency of ornithine aminotransferase in transformed lymphocytes
AU - Valle, D.
AU - Kaiser Kupfer, M. I.
AU - Del Valle, L. A.
PY - 1977
Y1 - 1977
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0017720352&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0017720352&partnerID=8YFLogxK
U2 - 10.1073/pnas.74.11.5159
DO - 10.1073/pnas.74.11.5159
M3 - Article
C2 - 270753
AN - SCOPUS:0017720352
SN - 0027-8424
VL - 74
SP - 5159
EP - 5161
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
IS - 11
ER -