Rare Endocrinology News
5 Facts you should know about
Pompe disease
1
It is caused by mutations in the GAA gene that encodes acid alpha-glucosidase (GAA), an enzyme responsible for breaking down glycogen
2
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
3
The absence or deficiency of GAA leads to accumulation of glycogen in the lysosomes of cells, particularly in muscle tissue
4
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
5
Genetic testing can identify mutations in the GAA gene, which confirms the diagnosis and is useful for family studies
Rare Endocrinology News
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