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PMID: 270753 Published · ppublish English Case Reports Journal Article

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 74 ·No. 11 ·1977-11-00 ·Pages 5159-61

Valle D, Kaiser-Kupfer MI, Del Valle LA

Abstract

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.

MeSH Terms
Adult Atrophy/enzymology Child, Preschool Choroid/pathology Female Humans Lymphocyte Activation Lymphocytes/enzymology Male Ornithine-Oxo-Acid Transaminase/deficiency Retina/pathology Retinal Degeneration/enzymology,pathology Thymidine/metabolism Transaminases/deficiency Uveal Diseases/enzymology,pathology
Chemicals
Transaminases Ornithine-Oxo-Acid Transaminase Thymidine
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Valle D
Kaiser-Kupfer M I
Del Valle L A
References (18)
18 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.74.11.5159
Published
1977-11-00
Pages
5159-61
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC432120
Subset
IM
External Links
PubMed source DOI: 10.1073/pnas.74.11.5159 PMC Full Text View journal details
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