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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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