What is glycogen storage disease?

summary

Glycogen storage disease (GSD) is a rare group of autosomal recessive genetic diseases. The patients can't metabolize glycogen normally, resulting in the disorder of glycogen synthesis or decomposition. Therefore, a large amount of glycogen (a kind of starch) is deposited in tissues and causes disease. There are many types of glycogen storage disease, among which type I, III, VI, IX are mainly liver lesions, type II, V, VII are mainly muscle tissue damage. The most serious glycogen storage disease is glycogen storage disease type II, which usually occurs within one year old. Avoiding exercise can make the symptoms subside. So what is glycogen storage disease? What are the specific symptoms and how to treat them.

What is glycogen storage disease?

Glycogen storage disease is characterized by hepatomegaly and hypoglycemia, including type Ia (glucose-6-phosphatase deficiency), more rare type Ib (g-6-p microsomal transferase deficiency), type III, type VI, and phosphatase B kinase deficiency with X chromosome and autosomal recessive inheritance. The main manifestations of muscle energy dysglycogen storage disease are muscle atrophy, hypotonia and dyskinesia, including type V and type VII, deficiency of phosphoglycerin mutase and ldhm subunit, and type II and type IV.

Glycogen storage disease (GSD) is a rare autosomal recessive genetic disease. The patients can't metabolize glycogen normally, which leads to the disorder of glycogen synthesis or decomposition. The main manifestations of GSD are hypoglycemia, muscle atrophy, dyskinesia, dystonia, etc. In the treatment, we should first control diet, if patients with acute attack, can take intravenous glucose, but also should take sodium bicarbonate to prevent acidosis, can be used to treat hyperuricemia.

Glycogen storage disease (GSD) is an enzyme deficiency in the process of glycogen metabolism, which leads to the disorder of glycogen metabolism. According to the lack of enzymes, glycogen storage disorders can be divided into at least 10 types. Taking the most common type I as an example, due to the lack of glucose-6-phosphatase in the liver, glycogen can not release glucose. There are more and more glycogen in the liver, and the liver is becoming larger and larger. At the same time, hypoglycemia occurs.

matters needing attention

Introduce the knowledge and prognosis of the disease to parents, and teach them the knowledge of diet control, so that they can understand the importance of long-term diet control for disease control. Since the application of dietotherapy, many patients have achieved normal growth and development after long-term treatment. Even if they stop treatment in adulthood, they will no longer have hypoglycemia and other symptoms. Parents should be taught how to observe the signs of hypoglycemia and how to deal with them, emphasize the necessity of prevention of infection and proper exercise, and need outpatient reexamination and regular follow-up.