Lysosomal glycogen storage disease with normal acid maltase

Moris J. Danon, Shin J. Oh, Salvatore DiMauro, Jose R. Manaligod, Abe Eastwood, Sakkubai Naidu, Louis H. Schliselfeld

Research output: Contribution to journalArticlepeer-review

273 Scopus citations


Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid a-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently generalized glycogenosis with no demonstrable enzyme defect is unknown.

Original languageEnglish (US)
Pages (from-to)51-57
Number of pages7
Issue number1
StatePublished - Jan 1981
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology


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