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Glycogen storage disease due to acid maltase deficiency, juvenile onset

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Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood.

Term info

Label

Glycogen storage disease due to acid maltase deficiency, juvenile onset

Synonyms
  • Alpha-1,4-glucosidase acid deficiency, juvenile onset
  • GSD due to acid maltase deficiency, juvenile onset
  • GSD type 2, juvenile onset
  • Glycogen storage disease type 2, juvenile onset
  • Glycogenosis due to acid maltase deficiency, juvenile onset
  • Glycogenosis type 2, juvenile onset
  • Pompe disease, juvenile onset
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