Abstract
GA is an autosomal recessive disease involving the eyes and type II muscle fibers. In the eyes, progressive atrophy of the choroid and retina starts by age 5-9 years and leads to virtual blindness in 20-40 years. Muscular involvement is clinically mild. The patients have 10-20-fold increased plasma ornithine concentrations, caused by lack of ornithine amino-transferase. Elevation of ornithine strongly inhibits arginine-glycine amidinotransferase, and decreases subsequently production of guanidinoacetic acid and creatine. We gave to 6 GA patients per os creatine 0.75-1.5 g divided in 3 daily doses. Muscle biopsies before treatment showed tubular aggregates and atrophy of type II muscle fibers in all but one subject. In control biopsies after 1 year of treatment, the atrophy was almost absent and very few cells contained tubular aggregates. The changes in cell size were highly significant. There was some progression in the choroidoretinal atrophies justified by photographs, but the Goldman visual fields showed some improvement. The treatment caused no side effects in the patients.
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Sipilä, I., Simell, O., Rapola, J. et al. Treatment of patients with gyrate atrophy of the choroid and retina with hyperornithinemia (GA) with creatine, a clinical trial. Pediatr Res 14, 1423 (1980). https://doi.org/10.1203/00006450-198012000-00091
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DOI: https://doi.org/10.1203/00006450-198012000-00091
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