Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.
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چکیده
منابع مشابه
Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.
Patients with gyrate atrophy of the choroid and retina have 10- to 20-fold increased ornithine concentrations in body fluids and significantly reduced activity of ornithine aminotransferase in lymphocytes and cultured fibroblasts. We administered intravenous arginine to six patients and six controls to study in vivo inhibition by high ornithine concentrations of arginine-glycine transamidinase,...
متن کاملGyrate atrophy of the choroid and retina with hyperornithinemia.
A case of gyrate atrophy of the choroid and retina and hyperornithinemia in a 28-year-old man was subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acids was unique to this patient, being absent in parents and siblings. He presented with progressive visual loss, and had cataracts and large areas of peripheral...
متن کاملGyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet.
Four patients with gyrate atrophy of the choroid and retina were studied, all of whom exhibited the hyperornithinemia characteristic of this disorder. Elevated plasma histidine and diminished plasma lysine and branched-chain amino acids were also noted. The renal clearances of these four amino acids were not sufficiently elevated to explain their low plasma levels. In one subject, an arginine-d...
متن کاملGyrate Atrophy of the Choroid and Retina: A Case Report
Introduction Gyrate atrophy of the choroid and retina is a metabolic disorder, which is inherited in an autosomal recessive pattern. Although gyrate atrophy is rare, it is concerning as it results in blindness. It is characterized by hyperornithinemia, retinal atrophy, leads to progressive myopia and tunnel vision,...
متن کاملGyrate atrophy of the choroid and retina associated with hyperornithinaemia.
The inheritance of the autosomal recessive type of gyrate atrophy of the choroid and retina seems well documented (Botermans, I 972), but the aetiology of the disease is still unknown. Animal experiments and some disturbances of lipid, carbohydrate, and protein metabolism connected with chorio-retinal degenerations in man support the possibility of an enzymatic disorder as an aetiological facto...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1980
ISSN: 0021-9738
DOI: 10.1172/jci109905