Pediatria pre prax 5/2009

Pompe disease

Pompe disease (Glycogenosis Type II) is an autosomal recessively inherited disorder. It is caused by deficiency of the lysosomal enzymes and thus storaging of the glycogen in the sceletal muscles and myocard. The main clinical symptome is myopathy. The severity is predicted by a residual activity of acid α-1,4-glucosidase. The incidence is 1:40000. The classification divides this disorder into infantile and late forms. The diagnostic algorythm includes clinical examination and finding of residual activity of the deficient enzyme and the gene mutation. The enzyme replacement therapy which has been available since 2007, can improve the lifequality of patients with Pompe disease.

Keywords: Pompe disease, glycogenosis, muscular hypothony, acid α-1,4-glucosidase, floppy baby syndrome, enzyme replacement therapy.