Pompe disease

This code identifies Pompe disease, also known as glycogen storage disease type II (GSD II) or acid alpha-glucosidase (GAA) deficiency. It is a rare, inherited metabolic disorder characterized by the accumulation of glycogen in lysosomes, primarily affecting muscle tissue, including cardiac, skeletal, and smooth muscles. The severity and age of onset vary, ranging from infantile-onset with severe cardiomyopathy to late-onset forms primarily affecting skeletal muscles.

Use this code for patients diagnosed with Pompe disease, confirmed through enzyme activity testing (e.g., GAA enzyme assay) or genetic testing. This code is appropriate for both infantile-onset and late-onset forms of the disease. Documentation should clearly state the diagnosis of Pompe disease and may include details regarding the specific type or clinical manifestations.

• Do not confuse with other glycogen storage diseases; ensure documentation specifically identifies Pompe disease (GSD II).
• Code any associated clinical manifestations, such as cardiomyopathy (I42.x), respiratory failure (J96.x), or muscle weakness (M62.81), as secondary diagnoses.
• Genetic testing results confirming GAA deficiency or reduced enzyme activity are strong supporting documentation for this diagnosis.