Systemic manifestations of gyrate atrophy of the choroid and retina.
In ten patients with gyrate atrophy (GA) and hyperornithinemia, the head hair was fine, straight, and sparse. On microscopic examination, both scalp and pubic hair contained intermittent dark cores within the medullary zone, which was not a deposit, but appeared to be due to the unusual refractive properties of loosely formed macrofilaments amidst wide spaces containing a structureless electron lucent but compact substance, which was insoluble in both water and solvents. Seven of the ten patients had abnormal wave forms on electroencephalography. Three of the five patients who underwent muscle biopsy had tubular aggregates. Of particular interest was the toxicity of exogenous ornithine added to muscle cell culture from GA patients as compared with the lack of toxicity in muscle from control patients. What specific role the hyperornithinemia and absence of OAT is playing in the histopathology of hair and muscle and the EEG changes awaits further biochemical investigation.
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D001284:Atrophy; D002648:Child; D002829:Choroid; D004569:Electroencephalography; D005260:Female; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000648:ultrastructure; D009952:Ornithine / Q000378:metabolism*; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency; D012162:Retinal Degeneration / Q000235:genetics*; D014603:Uveal Diseases / Q000235:genetics
D009952:Ornithine; D009953:Ornithine-Oxo-Acid Transaminase