Glycogen storage disease type Ⅱ

Glycogen storage disease is a disease caused by the excessive deposition of glycogen in tissues due to hereditary glycogen metabolism disorders. Glycogen storage diseases are classified into 11 types according to the different enzyme defects that cause glycogen metabolism disorders and the tissues in which excess glycogen is deposited. Glycogen storage disease type II (Pompe disease) is also called acid maltase deficiency. The disease is an autosomal recessive inheritance and can also spread. Clinically can be divided into infant, child and adult types. Glycogen storage disease type II (Pompe disease), caused by acid maltase deficiency (AMD) deficiency, causes glycogen to deposit in lysosomes, lysosomal proliferation, destruction, and even release abnormal lysosomal enzymes As a result, a series of blood cell structures were destroyed. The neurological manifestations of glycogen storage disease type Ⅱ are mainly dyskinesias, with muscle weakness, muscle atrophy, pseudohypertrophy and other myopathies being more common.

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