Pompe Disease

Pompe Disease is indexed under Rare / Orphan Chronic, Lysosomal Storage Disorders. Also known as glycogen storage disease type II, acid maltase deficiency.

US prevalence

~1 in 40,000 (all forms) Source: NIH NINDS; AMDA. Cites federal and non-federal sources, and the record does not say which one gave this figure. Label: REPORTED.

ICD-10-CM codes

E74.02

Typical onset

Infantile: <1 year; Late-onset: childhood to adulthood

Course

progressive

Body systems

musculoskeletal, pulmonary, cardiac

Sex differences

Equal (autosomal recessive)

Racial and ethnic differences

Pan-ethnic; infantile form more common in African American and Chinese populations

What this page does not establish

These figures describe populations, not individuals, and none of them is a diagnosis or a treatment recommendation. Prevalence estimates are approximate and reflect published ranges. Disparity figures are reported patterns, not causes.

Taxonomy last reviewed 2026-05-19. Each figure on the interactive page carries its own source and retrieval date, which can be later than this review.

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