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Creatine corrects muscle 31 P spectrum in gyrate atrophy with hyperornithinaemia
Author(s) -
Kaarlo Heinänen,
Kirsti NäntöSalonen,
Markku Komu,
Minna Erkintalo,
A. Alanen,
Olli J. Hein,
Kari Pulkki,
Eeva Nikoskelainen,
Ilkka Sipilä,
Olli Simell
Publication year - 1999
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1046/j.1365-2362.1999.00569.x
Subject(s) - creatine , medicine , endocrinology , pi , phosphocreatine , ornithine , choline , arginine , in vivo magnetic resonance spectroscopy , methionine , atrophy , creatinine , creatine monohydrate , chemistry , biology , magnetic resonance imaging , biochemistry , pathology , amino acid , energy metabolism , radiology , placebo , alternative medicine
Background Eye fundus destruction and type II muscle fiber atrophy in gyrate atrophy of the choroid and retina with hyperornithinaemia (GA) may be mediated by elevated ornithine concentrations which strongly inhibit creatine biosynthesis. This results in deficiency of creatine phosphate (PCr), a key intracellular energy source, as we have demonstrated in skeletal muscle of the patients by 31 P magnetic resonance spectroscopy ( 31 P MRS). Materials and methods Possible correction of the relative PCr deficiency by long‐term daily exogenous supplementation of creatine or its precursors was investigated in four GA patients receiving creatine and in five patients treated with guanidinoacetic acid‐methionine combination. The relative PCr concentration, expressed as PCr/P i (P i ; inorganic phosphate) or as PCr/ATP ratios, was compared with the values of untreated GA patients, and matched healthy volunteers. Results Muscle PCr/Pi ratios (mean ± SD) of the untreated and creatine supplemented GA patients and controls were 4.9 ± 1.4, 7.9 ± 0.4 and 8.4 ± 1.3. Guanidinoacetate‐methionine combination was similarly effective (respective PCr/Pi ratios: 4.9 ± 0.7, 6.3 ± 1.1 and 10.7 ± 2.8). Conclusion Supplementation with creatine or creatine precursors almost normalised low muscle PCr/Pi ratios of patients with GA.