Genetic diseases that are characterized by excess glycogen stores. Rare autosomal recessive diseases due to mutations in the genes that encode different enzymes needed for glycogen metabolism.
Any one of several heritable diseases characterized by the abnormal storage and accumulation of glycogen in the tissues, especially in the liver. These diseases are grouped into various types according to the enzyme deficiency responsible.
Glycogen storage diseases (GSDs), also known as glycogenoses, are a group of uncommon genetic disorders. They’re characterized by a lack or deficiency of certain enzymes, which are proteins that function as catalysts for the metabolism of glycogen. These enzyme defects can result in abnormal levels of glycogen in the tissues, inadequate glucose (a simple sugar) in the blood, or the body’s inability to utilize glucose for energy. These conditions can affect the liver, the muscles, or both.
There are numerous kinds of Glycogen Storage Diseases (GSDs), one of which is GSD type I. This disorder is caused by a defect in glucose-6-phosphatase, an enzyme that assists in gluconeogenesis in the liver. The majority of GSDs are inherited in an autosomal recessive pattern, meaning they occur when a child receives the affected gene from both parents, who are carriers of the condition.
The characteristics of Glycogen Storage Diseases (GSDs) can vary depending on the specific type. Symptoms and signs may encompass failure to grow normally during childhood, muscle cramps and wasting, an enlarged liver, and low blood glucose levels.
Diagnosis might include biochemical testing of tissue samples obtained from a muscle biopsy or a liver biopsy.
Certain types of Glycogen Storage Diseases (GSDs) can be managed by controlling symptoms, which might include dietary modifications. In some instances, a liver transplant may be considered. However, for other types, no viable treatment options exist, resulting in fatalities within the first few years of life.