x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

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: -

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)
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.