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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: -
- 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
- Article for general public
- Français (2010, pdf) - Orphanet
- Español (2012, pdf) - Sanofi
- English (2014) - Socialstyrelsen
- Deutsch (2017, pdf) - ACHSE
- Svenska (2022) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- English (2011) - Gene Med
- Français (2016) - PNDS
- Anesthesia guidelines
- Czech (2016) - Orphananesthesia
- English (2016) - Orphananesthesia
- Español (2016) - Orphananesthesia
Disease review articles
- Review article
- Español (2016, pdf) - Rev Neurol
- Clinical genetics review
- English (2017) - GeneReviews
Clinical Outcome Assessment (COA)
- Patient-Centered Outcome Measures (PCOMs)
- English (2023) - PROQOLIDTM
Genetic Testing
- Guidance for genetic testing
- Français (2016, pdf) - ANPGM
: produced/endorsed by ERN(s) : 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.