What are the two types of Pompe disease?

Pompe disease is known under the alternative names ‘glycogen storage disease type II’ (GSDII), acid alpha-glucosidase (GAA) deficiency, and ‘acid maltase’ deficiency (acid maltase is another name for acid alpha-glucosidase).

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Which is Type II Glycogenosis?

Glycogenosis type II, also known as glycogen storage disease type II, Pompe disease, or acid maltase deficiency, is a genetic muscle disorder caused by mutations in the gene encoding the acid alpha-glucosidase (GAA) enzyme, which is essential for the degradation of glycogen to glucose in lysosomes.

What is GSD Type II?

Glycogen-storage disease type II (GSD II), also known as Pompe disease, is part of a group of metabolic diseases called lysosomal storage disorders (LSDs). GSD II is an autosomal-recessive disorder that results from deficiency of acid alpha-glucosidase (also known as acid maltase), a lysosomal hydrolase.

How does Pompe disease affect muscles?

Pompe disease happens when your body can’t make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs. Pompe disease causes muscle weakness and trouble breathing.

What type of term is Pompes disease?

What is Pompe disease? Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body.

Why does Pompe’s disease cause muscle weakness?

What is glycogen storage disease type 3?

GSD-III is a genetic disorder characterized by variable liver, cardiac muscle and skeletal muscle abnormalities. Symptoms are associated with abnormalities in the AGL gene, causing deficiency of the glycogen debranching enzyme. GSD-III is inherited as an autosomal recessive trait.

What is glycogen storage disease type 4?

Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues.

Why does Pompe disease cause muscle weakness?

What are Pompe symptoms?

Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues.

Which enzyme is defective in Pompes disease?

Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body.

What are the different types of glycogen storage disease?

Types of Glycogen Storage Disease

Type I (Von Gierke disease) – this is the most common type of glycogen storage disease, and accounts for 90% of all glycogen storage disease cases.
Type II (Pompe’s disease, acid maltase deficiency)
Type III (Cori’s disease)
Type IV (Andersen’s disease)
Type V (McArdle’s disease)

What is glycogen storage disease type 7?

Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.

What type of mutation is Pompe disease?

Pompe disease (PD-MIM# 232300), is an autosomal recessive lysosomal storage disorder due to mutations in the acid alpha-glucosidase (GAA) gene (MIM#606800) encoding the lysosomal GAA.

What is GAA enzyme?

The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells.

What is Anderson’s disease?

What is myophosphorylase deficiency?

McArdle disease is a muscle disorder in which the muscles cannot break down glycogen, a type of complex sugar derived from glucose in the food that we eat. The chemical reaction that breaks down glycogen requires an enzyme called myophosphorylase.