Pompe disease is a lysosomal disease caused by the lack of an enzymatic protein involved in glycogen breakdown. Inherited in an autosomal recessive mode, it results almost constantly in restrictive respiratory failure. A distinction is made between the infant form, which appears very early and has a poor prognosis (IOPD for Infantile Onset Pump Disease) and the later onset form (LOPD for Late Onset Pump Disease). Enzyme replacement therapy (ERT) has been available since 2006 and has significantly changed the natural history of this disease, especially in children. The diagnosis is made on the basis of biochemical tests (on blotting paper, on lymphocytes or on fibroblasts) and then confirmed by the presence of abnormalities in the GAA gene.
In an article published in November 2020, Dutch specialists look back on 28 years of practice in the field of enzymatic diagnostics, which benefited 1,709 people in their laboratory. About 10% of them turned out to have genuine Pompe disease. The most predictive technique for the severity of the phenotype is the fibroblast assay (with 4MUG as substrate). This technique also remains the most suitable for eliminating pseudo-deficiency in alpha-glucosidase, a frequent occurrence in the population of Asian origin. However, this assay is not performed routinely everywhere and requires several weeks of waiting due to fibroblasts culture.
