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January 1, 1981Neurology406 citations

Lysosomal glycogen storage disease with normal acid maltase

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MDMoris J. DanonSOShin J. OhSDSalvatore DiMauro

Key Points

  • To describe the clinical presentation and biochemical findings in two cases of lysosomal glycogen storage disease without an identified enzyme defect.
  • Clinical evaluation of two unrelated 16-year-old boys with mental retardation, cardiomegaly, and proximal myopathy.
  • Histochemical and electron microscopy analysis of muscle biopsies for glycogen storage assessment.
  • Biochemical analysis of muscle and urine for glycogen content and enzyme activity.
  • Both cases exhibited increased glycogen content in muscle biopsies with normal enzyme activity.
  • Histological findings resembled acid maltase deficiency, despite normal acid alpha-glucosidase activity.
  • No identifiable enzyme defects were found in glycogen metabolism, suggesting a novel glycogenosis.

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 alpha-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.

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Cite This Study

Danon et al. (1981) studied this question.

synapsesocial.com/papers/69d56c0875589c71d767cad9https://doi.org/10.1212/wnl.31.1.51
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