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Glycogen storage disease due to acid maltase deficiency, infantile onset

Disease definition

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

ORPHA:308552

Classification level: Subtype of disorder
  • Synonym(s):
    • Alpha-1,4-glucosidase acid deficiency, infantile onset
    • GSD due to acid maltase deficiency, infantile onset
    • GSD type 2, infantile onset
    • GSD type II, infantile onset
    • Glycogen storage disease type 2, infantile onset
    • Glycogen storage disease type II, infantile onset
    • Glycogenosis due to acid maltase deficiency, infantile onset
    • Glycogenosis type 2, infantile onset
    • Glycogenosis type II, infantile onset
    • Pompe disease, infantile onset
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy
  • ICD-10: E74.0
  • ICD-11: 5C51.3
  • OMIM: 232300
  • UMLS: C3888924
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Italiano (2017) Nederlands (2017) 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.