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The adult form of acid maltase (α‐1,4‐glucosidase) deficiency
Author(s) -
Karpatid George,
Carpenter Stirling,
Eisen Andrew,
Aubé Michel,
DiMauro Salvatore
Publication year - 1977
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410010314
Subject(s) - wasting , glycogen storage disease type ii , glycogen storage disease , endocrinology , glycogen , medicine , muscle weakness , reinnervation , weakness , denervation , maltase , anatomy , biology , biochemistry , enzyme , disease , enzyme replacement therapy
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.