Creatine corrects muscle 31P spectrum in gyrate atrophy with hyperornithinaemia.
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 31P magnetic resonance spectroscopy (31P MRS).


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/Pi (Pi; 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).


CONCLUSIONS
Supplementation with creatine or creatine precursors almost normalised low muscle PCr/Pi ratios of patients with GA.
Heinänen
K
K
Department of Paediatrics, University of Turku, Finland.
Näntö-Salonen
K
K
Komu
M
M
Erkintalo
M
M
Alanen
A
A
Heinonen
O J
OJ
Pulkki
K
K
Nikoskelainen
E
E
Sipilä
I
I
Simell
O
O
D000293:Adolescent; D000328:Adult; D002648:Child; D003401:Creatine / Q000627:therapeutic use*; D019587:Dietary Supplements; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives / Q000627:therapeutic use; D015799:Gyrate Atrophy / Q000150:complications / Q000188:drug therapy / Q000378:metabolism*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008715:Methionine / Q000627:therapeutic use; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000187:drug effects / Q000378:metabolism*; D009952:Ornithine / Q000378:metabolism*; D010759:Phosphorus Isotopes
D010759:Phosphorus Isotopes; D008715:Methionine; D009952:Ornithine; C004946:glycocyamine; D003401:Creatine; D005998:Glycine