Glycogenosis Type II

Glycogenosis type II

Glycogenosis type II (also known as generalized glycogenosis or Pompe disease) is a rare inherited disease associated with impaired glycogen metabolism. In this disease, there is a deficiency of the lysosomal enzyme acid α-glucosidase, which is responsible for the breakdown of glycogen.

Due to the deficiency of this enzyme, glycogen accumulates in the lysosomes of cells of various tissues, primarily in skeletal and cardiac muscles. This leads to disruption of their functions and the development of severe symptoms. Children experience delayed motor and mental development, muscle weakness, and cardiomyopathy. In adults - progressive muscle weakness, respiratory and cardiac problems.

Treatment of type II glycogenosis includes enzyme replacement therapy with a recombinant acid α-glucosidase drug. Symptomatic and supportive therapy is also provided. With timely treatment, the prognosis for children is relatively favorable.

Pompe disease type II is a genetic disorder that causes glycogen to accumulate in tissues. This glycogen is a sugar molecule that is stored in cells. In Pompe disease, glycogen accumulates in various organs and tissues, which can lead to serious health problems.

Gli

Glycogenolysis type I, also known as pump disease, is a disorder of glucose metabolism that results from the deficiency or absence of enzymes responsible for breaking down the heparin molecule called glycogen 1-phosphorylase II and ammonialdehyde