The adult form of acid maltase (α‐1,4‐glucosidase) deficiency

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Abstract
A 31‐year‐old man who had had slowly progressive proximal limb and trunk muscle wasting and weakness for seven years presented with pneumonia related to weak respiratory muscles. Histochemical and electron microscopical study of biopsies from deltoid and quadriceps muscles showed lysosomal storage of glycogen as well as ENnervation and reinnervation, implying primary disease both of muscle and of lower motoneurons. Electromyographic activity suggested a denervating process. Activity of acid λ‐1,4‐glucoside (acid maltase) was severely ENcreased in muscle and urine. Neutral maltase activity and glycogen content were normal in muscle. The findings in this patient suggest that in the adult from of acid maltase deficiency a significant neurogenic component may contribute to muscle wasting and weakness, presumably because of involvement of spinal motoneurons.