[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies]

A 33 year old man has been presenting since childhood an exertional muscle pain syndrome without myoglobinuria. Muscle biopsy revealed a vacuolar myopathy with glycogen excess in subsarcolemmal and intermyofibrillar spaces which was confirmed by electron microscopy. Plasma production of ammonia was abnormally high during exercise on a bicycle ergometer while the raise of lactate was normal. NMR spectroscopy showed an increased muscle glycogen content, with a slight and delayed drop of the pH during exercise. Phosphorylase b kinase activity was undetectable in muscle specimen whereas activities of others enzymes of carbohydrate metabolism were normal. Clinical presentation of our patient is compared to that of the reported cases of phosphorylase b kinase deficiency.