Hypophosphataemic osteomalacia and myopathy: studies with nuclear magnetic resonance spectroscopy

A patient with familial adult-onset hypophosphataemia, whose myopathy was closely related to the plasma phosphate concentration, was investigated by phosphorus nuclear magnetic resonance spectroscopy (31P n.m.r.) in vivo of the right flexor digitorum superficialis muscle. During hypophosphataemia induced by stopping oral phosphate a significant reduction in measured muscle strength occurred, but the ratios of the intramyocellular levels of phosphocreatine (PCr), adenosine triphosphate (ATP) and inorganic phosphate (Pi) remained unchanged at rest. During exercise these levels changed, as did the intramyocellular pH, but they did not differ from the pattern previously recorded in normal subjects. In four adults with inherited infantile-onset hypophosphataemia (vitamin D-resistant rickets, VDRR) without myopathy, the n.m.r. measurements were normal at rest and during exercise. In one patient with inherited hyperphosphataemia (tumoral calcinosis) the resting PCr: Pi ratio was significantly reduced.