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Glycogen storage disease due to acid maltase deficiency

Orpha number ORPHA365
Synonym(s) Alpha-1,4-glucosidase acid deficiency
GSD due to acid maltase deficiency
GSD type 2
Glycogen storage disease type 2
Glycogenosis due to acid maltase deficiency
Glycogenosis type 2
Pompe disease
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Antenatal
Neonatal
Infancy
Childhood
Adolescent
Adult
ICD-10
  • E74.0
ICD-O -
OMIM
UMLS
  • C0017921
MeSH
  • D006009
MedDRA
  • 10053185

Summary

Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal.


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Detailed information

Summary information
Clinical practice guidelines
  • EN (2011)
Article for general public
  • FR (2010,pdf)
Clinical genetics review
  • EN (2012)
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.