Abstract
GA is an autosomal recessive disorder with characteristic chorioretinal degeneration; atrophy and tubular aggregates in type II muscle fibers; 10-20 fold increase in ornithine concentration in body fluids; and deficient activity of ornithine-δ-aminotransferase. Based on the inhibition by high ornithine concentration of the rate-limiting enzyme of creatine synthesis, the low excretion of the reaction product (guanidinoacetic acid), and low serum and urinary concentrations of creatine and creatinine in the patients, creatine and creatine phosphate deficiency has been suggested to be involved in the pathogenesis of GA. We supplemented 13 patients (age 6-31 years) with creatine, 0.5 g × 3 daily for 36-72 months. Deterioration of visual function tests and fundus photographs was seen during the treatment, apparently with similar velocity as in untreated cases. Deterioration varied considerably among individuals, being fastest in the youngest patients. Muscle abnormalities decreased or disappeared within months of the initiation of the therapy; changes reappeared in two who discontinued supplementation. Differences in creatine responses in the two organs may depend on too small creatine dosage, impermeability of blood-eye barrier for creatine, or on different mechanisms of the atrophy in muscle and eye.
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Vannas-Sulonen, K., Sipila, I., Vannas, A. et al. 869 FIVE YEAR FOLLOW-UP OF CREATINE SUPPLEMENTATION IN GYRATE ATROPHY OF THE CHOROID AND RETINA (GA). Pediatr Res 19, 255 (1985). https://doi.org/10.1203/00006450-198504000-00899
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DOI: https://doi.org/10.1203/00006450-198504000-00899