GSD

Glycogen storage disease (GSD) is a group of inherited genetic disorders that involve the abnormal metabolism of glycogen. It is caused by a deficiency in one of the enzymes necessary for either glycogen synthesis or degradation.

Types of GSD

There are several types of GSD, each named by a Roman numeral and an eponym for the physician or the patient who first described the condition.

• GSD I (von Gierke disease) - This is the most common type of GSD. It is caused by a deficiency in the enzyme glucose-6-phosphatase, which is necessary for the final step of gluconeogenesis and glycogenolysis.

• GSD II (Pompe disease) - This type is caused by a deficiency in the enzyme acid alpha-glucosidase, which is necessary for the breakdown of glycogen in lysosomes.

• GSD III (Cori disease) - This type is caused by a deficiency in the enzyme debrancher enzyme, which is necessary for the breakdown of glycogen.

• GSD IV (Andersen disease) - This type is caused by a deficiency in the enzyme branching enzyme, which is necessary for the synthesis of glycogen.

• GSD V (McArdle disease) - This type is caused by a deficiency in the enzyme muscle phosphorylase, which is necessary for the breakdown of glycogen in muscle cells.

Symptoms

The symptoms of GSD vary depending on the type and severity of the disease. Common symptoms include hypoglycemia, hepatomegaly, muscle weakness, and growth retardation.

Diagnosis

GSD is diagnosed through a combination of physical examination, medical history, and laboratory tests. Genetic testing can confirm the diagnosis and identify the specific type of GSD.

Treatment

There is currently no cure for GSD. Treatment is aimed at managing symptoms and preventing complications. This may include dietary modifications, medications, and in some cases, surgery.

See also

• Genetic disorders
• Glycogen
• Hypoglycemia
• Hepatomegaly
• Muscle weakness
• Growth retardation

GSD Resources
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