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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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Medical codes (for reference)
UMLS CUI: C0017921ICD-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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