5 Facts you should know about

Pompe disease

It is caused by mutations in the GAA gene that encodes acid alpha-glucosidase (GAA), an enzyme responsible for breaking down glycogen

It is inherited in an autosomal recessive manner, meaning that an individual must inherit two defective genes, one from each parent, to develop the disease

The absence or deficiency of GAA leads to accumulation of glycogen in the lysosomes of cells, particularly in muscle tissue

Pompe disease has a wide spectrum, with forms ranging from the severe infantile-onset, which is rapidly progressive, to a less severe late-onset form

Genetic testing can identify mutations in the GAA gene, which confirms the diagnosis and is useful for family studies

See our full disease profile

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