Pompe disease

. Pompe disease is a rare, progressive disease, the basis of which is the pathogenesis of excessive accumulation of glycogen by lysosomes due to mutation of the GAA gene and loss of activity of the enzyme acidic α-glucosidase. Preferred accumulation of glycogen is noted in cross-linked muscles, but can vary in degrees in other organs and tissues, including cardiac muscle, liver, nervous system. The type of inheritance is autosomal recessive. In clinical practice, the detection of characteristic symptoms allows you to timely suspect Pompe disease. Sufficient awareness and alertness of the doctor about Pompe's disease, with a combination of characteristic symptoms, facilitates diagnosis. RT in T1 mode makes it easy to assess muscle tropism and to identify specific areas of fibrous-fat degeneration, which is characteristic of muscular dystrophy. The study of muscular biopsy in Pompe disease reveals a vacuated myopathy of lysosomal nature in determining the activity of acid phosphatase, in a histo-enzymatic study, as well as glycogen accumulation. The basis of the biochemical diagnosis of Pompe disease is the study of the activity of the enzyme GAA with the help of natural or synthetic