Abstract
A Turkish couple suffering from McArdle disease (myophosphorylase deficiency) and their two sons aged 5 and 9 years, respectively, were studied using31phosphorus magnetic resonance spectroscopy (31P MRS). During exercise both sons showed the same pathological pattern as their parents. In contrast to healthy volunteers, intracellular pH (pHi) as measured by31P MRS every 10s during exercise, never fell below the lower 95% confidence limit (6.94) of pHi at rest (7.06), but tended to be raised. It is of special interest that the 5-year-old boy was completely asymptomatic, although the enzyme defect seems to be fully expressed at the cellular level.
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Abbreviations
- ADP:
-
adenosine diphosphate
- ATP:
-
adenosine triphosphate
- Mg:
-
magnesium
- Pi :
-
inorganic phosphate
- Ptot :
-
Sum of peak areas (PME+Pi+PCr+γATP+αATP+βATP)
- PCr:
-
phosphocreatine
- pHi :
-
intracellular pH
- PME:
-
phosphomonoesters
- 31PMRS:
-
31 phosphorus magnetic resonance spectroscopy
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Gruetter, R., Kaelin, P., Boesch, C. et al. Non-invasive31P magnetic resonance spectroscopy revealed McArdle disease in an asymptomatic child. Eur J Pediatr 149, 483–486 (1990). https://doi.org/10.1007/BF01959400
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DOI: https://doi.org/10.1007/BF01959400