How is glycogen storage disease type II caused in children?

summary

Glycogen storage disease type II is cardiac glycogen accumulation syndrome, also known as Pompe's disease, Pompe's syndrome, disseminated glycogen accumulation cardiac hypertrophy, congenital cardiac rhabdomyoma, systemic glycogen accumulation neuromuscular type, glycogen heart syndrome, etc. it is a kind of glycogen metabolism disorder caused by congenital enzyme deficiency. It is mainly due to the lack of acid maltase, so there is a large amount of glycogen accumulation in all tissues of the body. Its main symptoms are heart failure and muscle weakness, and it can die of heart failure in childhood. Children glycogen storage disease type II is how to cause, now talk to you.

How is glycogen storage disease type II caused in children?

This disease is autosomal recessive inheritance, mainly due to the lack of acid maltase in the body（ α- 1,4-glucosidase (1,4-glucosidase) can cause the breakdown of muscle glycogen and glycogen deposition in myocardium and skeletal muscle, which affects the contractile function of the heart and leads to heart failure.

Glycogen storage disease type II (GSD - Ⅱ) is caused by α- 1,4-glucosidase (acid maltase) is a lysosomal enzyme which can decompose oligosaccharides and glycogen into glucose; When the enzyme is deficient, a large amount of glycogen is stored in lysosomes, and lysosomes swell, causing cell damage. As a result, the decomposition of muscle glycogen is impaired, and glycogen deposition occurs in myocardium and skeletal muscle. The myocardium is splint like because it contains a lot of glycogen, which affects the contractile function of the heart and leads to heart failure.

The pathological examination showed that all kinds of tissues in the body were involved, and a large amount of glycogen was accumulated in liver, muscle, heart, motor nucleus of brain stem and anterior horn cells of spinal cord.

matters needing attention

This disease is a chromosomal disease. The cause of chromosomal abnormalities is not clear. It may be related to environmental factors, genetic factors, diet factors, mood and nutrition during pregnancy. Therefore, this disease cannot be directly prevented. Regular examination should be done during pregnancy. If the child has a tendency of abnormal development, chromosome screening should be done in time. Abortion should be carried out in time to avoid the birth of the sick child.