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Pompe Disease - Medical Condition Information

Pompe Disease

Glycogen Storage Disease Type II
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📋Overview

Pompe disease is a rare inherited metabolic disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA), leading to accumulation of glycogen in lysosomes. It is also known as glycogen storage disease type II. The condition primarily affects muscle function and presents with a spectrum of severity from infantile-onset to late-onset forms.

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Community Experience Ratings are based on individual experiences. Ratings may vary and do not replace professional medical advice.

Medical codes (for reference)

UMLS CUI: C0017921
ICD-10-CM
E74.02
MeSH
D006009
SNOMED CT (US)
274864009

Codes are provided for reference and interoperability. They are not a diagnosis.

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