Lysosomal glycogen storage disease with normal acid maltase

Academic Article

Abstract

  • 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. © 1981 American Academy of Neurology.
  • Authors

    Published In

  • Neurology  Journal
  • Digital Object Identifier (doi)

    Author List

  • Danon MJ; Oh SJ; DiMauro S; Manaligod JR; Eastwood A; Naidu S; Schliselfeld LH
  • Start Page

  • 51
  • End Page

  • 57
  • Volume

  • 31
  • Issue

  • 1