Glycogenosis

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Von Gierke disease (type I): This is the most common type of glycogenosis, and it affects the liver primarily. People with this disorder have a deficiency of the enzyme glucose-6-phosphatase, which is needed to break down glycogen into glucose. This results in low blood sugar levels (hypoglycemia), enlarged liver and spleen, and growth delays.

Pompe disease (type II): This type of glycogenosis affects both the liver and muscle cells. People with Pompe disease have a deficiency of the enzyme acid alpha-glucosidase, which leads to a buildup of glycogen in these cells. This can cause muscle weakness, respiratory problems, and heart failure.

McArdle disease (type V): This type of glycogenosis affects muscle cells. People with McArdle disease have a deficiency of the enzyme glycogen phosphorylase, which is needed to break down glycogen into glucose. This can lead to muscle cramps, pain, and fatigue during exercise.

There are other less common types of glycogenosis, including types III, IV, VI, VII, VIII, IX, and X. Treatment for glycogenosis typically involves managing symptoms and providing supportive care. In some cases, enzyme replacement therapy or liver transplantation may be necessary.