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Glycogen storage disease due to acid maltase deficiency

Disease definition

A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.

ORPHA:365

Classification level: Disorder
  • Synonym(s):
    • Alpha-1,4-glucosidase acid deficiency
    • GSD due to acid maltase deficiency
    • GSD type 2
    • GSD type II
    • Glycogen storage disease type 2
    • Glycogen storage disease type II
    • Glycogenosis due to acid maltase deficiency
    • Glycogenosis type 2
    • Glycogenosis type II
    • Pompe disease
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy, Childhood, Adolescent, Adult
  • ICD-10: E74.0
  • ICD-11: 5C51.3
  • OMIM: 232300
  • UMLS: C0017921
  • MeSH: D006009
  • GARD: 5714
  • MedDRA: 10053185

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2007) Italiano (2007) Português (2007) Greek (2014, pdf)

Detailed information

General public

Guidelines

Disease review articles

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.