Supplementary Creatine as a Treatment for Gyrate Atrophy of the Choroid and Retina

Abstract

Gyrate atrophy of the choroid and retina is a disease characterized by progressive constriction of visual fields, a 10-fold to 20-fold elevation in plasma ornithine, and depressed activity of L-ornithine:2 oxoacid aminotransferase. Morphologically conspicuous but clinically unimportant atrophy of Type II muscle fibers progresses concomitantly with the eye disease. A pathogenic component of the disease may be deficient formation of creatine, caused by hyperornithinemia, which leads to a shortage of cellular phosphocreatine energy stores. To test the therapeutic value of replenishing the postulated deficiency of creatine, we supplemented the diet of seven patients with 1.5 g of creatine daily. During one year of this treatment the diameters of Type II muscle fibers increased from 34.1 +/- 7.1 to 49.9 +/- 7.0 micron (mean +/- S.D.) (P less than 0.001). There was no significant increase in the diameters of Type I fibers. The visual-field tests showed no further constriction during the therapy. Fundus photography revealed slow impairment at an age otherwise associated with rapid progression of the disease. These promising preliminary results need further evaluation with long-term follow-up studies.

The effects of creatine supplementation on thermoregulation and physical (cognitive) performance: a review and future prospects

“…Cr supplementation (Sipilä et al 1981). This observation raises the possibility that higher CrT could be linked with a higher percentage of type II fibres.…”

No effects of lifelong creatine supplementation on sarcopenia in senescence-accelerated mice (SAMP8)

“…First, it has recently been shown that, in healthy persons, after an initial rise during the first weeks of creatine supplementation (9,12), muscle creatine content (and supposedly with it the related ergogenic or therapeutic effects) gradually returns to baseline levels during prolonged creatine supplementation (2). Possibly, longterm beneficial effects of creatine supplementation are only to be expected in pathological conditions that are characterized by a primary deficit in creatine metabolism leading to chronically decreased tissue creatine content such as in inborn errors of creatine synthesis and in gyrate atrophy (13,20,21). Second, despite the fact that a 6-mo to 1-yr intervention appears long according to experimental standards, such period represents only a minor fraction of the time window over which sarcopenia develops in older individuals.…”

No effect of creatine supplementation on human myofibrillar and sarcoplasmic protein synthesis after resistance exercise

“…There is evidence that the increase in muscle mass does not simply represent an increase in total body water but is mainly intracellular, suggesting that the body cell dry mass has increased (10). Also, there are a number of reports showing increases in muscle fiber area as a result of consuming creatine while training using resistance exercise (29,30) or during treatment of patients with muscle atrophy (13,28).…”