Pompe disease is a multisystemic metabolic rare disease caused by the deficiency of the lysosomal enzyme acid-α-glucosidase (GAA) leading to progressive muscle weakness, organomegaly, respiratory failure, and ultimately death. The inotropic c.-32-13T > G mutation is a commonly reported mutation among cases with late-onset Pompe disease and presents in 40%-90% of the cases, with predominance among Caucasian Populations. In addition, c.1856G > A missense mutation effectively reduces GAA activity and is associated with an intermediate disease course.
To date, the mechanisms by which the c.-32-13T > G mutation affects GAA mRNA splicing and c.1856G > A affects GAA activity are not fully known. Therefore, this manuscript reviews the current literature describing the frequency of c.-32-13T > G and c.1856G > A variation in Pompe disease patients and the mechanisms underlying these variations.
Key words: Pompe disease, lysosomal storage diseases, LSD, metabolic disease, alpha-glucosidase, gene mutation.
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