Type 1 glycogenosis
type 1 glycogenosis n.
Glycogenosis caused by glucose 6-phosphatase deficiency and resulting in the accumulation of excessive amounts of glycogen, particularly in liver and kidney tissues. Also called Gierke’s disease, von Gierke’s disease.
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- Type 2 glycogenosis
type 2 glycogenosis n. Glycogenosis caused by a deficiency of acid maltase, resulting in the accumulation of glycogen in all organs and marked by cardiorespiratory failure and death, usually before age 2. Also called generalized glycogenosis, Pompe’s disease.
- Type 3 glycogenosis
type 3 glycogenosis n. Glycogenosis due to a deficiency of amylo-1,6-glucosidase, resulting in the accumulation of abnormal glycogen in liver and muscle tissues and characterized by symptoms that are similar to but milder than those of type 1 glycogenosis. Also called Cori’s disease, debrancher deficiency limit dextrinosis, Forbes disease.
- Type 4 glycogenosis
type 4 glycogenosis n. Glycogenosis due to brancher enzyme deficiency, resulting in the accumulation of abnormal glycogen in liver, kidney, muscle, and other tissues and characterized by progressive cirrhosis of the liver, leading to liver failure and death, usually before age 2. Also called Andersen’s disease, brancher deficiency amylopectinosis.
- Type 5 glycogenosis
type 5 glycogenosis n. Glycogenosis due to a phosphorylase deficiency resulting in the accumulation of glycogen in muscle and characterized by muscle cramping that limits the ability to perform strenuous exercise. Also called McArdle-Schmid-Pearson disease, McArdle’s disease.
- Type 6 glycogenosis
type 6 glycogenosis n. Glycogenosis due to a phosphorylase deficiency resulting in an accumulation of glycogen in the liver and characterized by symptoms similar to but milder than those of type 1 glycogenosis. Also called Hers disease.