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Start free with EleplanGlycogen storage disease due to acid maltase deficiency, infantile onset
ORPHA:308552Clinical subtype
Also called 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
What it is
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.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Taiwan, Province of China)
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
17- Abnormal enzyme/coenzyme activity
- Cardiomegaly
- Delayed ability to sit
- Delayed ability to stand
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating creatine kinase concentration
- Failure to thrive
- Feeding difficulties in infancy
- Floppy infant
- Hepatomegaly
- Hypertrophic cardiomyopathy
- Increased circulating lactate dehydrogenase concentration
- Left ventricular hypertrophy
- Left ventricular outflow tract obstruction
- Multifocal hyperintensity of cerebral white matter on MRI
- Muscle weakness
- Oligosacchariduria
Common30–79%
16- Areflexia
- Facial hypotonia
- Generalized muscle weakness
- Heart murmur
- Low-output congestive heart failure
- Macroglossia
- Motor delay
- Proximal muscle weakness
- Respiratory distress
- Respiratory failure
- Respiratory failure requiring assisted ventilation
- Respiratory insufficiency
- Respiratory insufficiency due to muscle weakness
- Respiratory tract infection
- Shortened PR interval
- Tongue muscle weakness
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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