How is acid maltase deficiency diagnosed?
How is acid maltase deficiency diagnosed?
Measurement of acid alpha-glucosidase enzyme activity in dried blood specimens is an optimal and reliable diagnostic test for acid maltase deficiency. Serum CK usually is elevated in the forms of the disease that affect younger patients, but CK can be within the reference range in the adult variety.
What is the function of acid maltase?
Acid alpha-glucosidase, also called α-1,4-glucosidase and acid maltase, is an enzyme (EC 3.2. 1.20) that helps to break down glycogen in the lysosome.
What happens if maltase deficiency?
Acid maltase deficiency in adults is associated with progressive muscle weakness and may effect respiratory muscles resulting in respiratory failure.
How is acid maltase deficiency inherited?
This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where is acid maltase?
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 an inhibitor of maltase?
Acarbose or maltose was used to inhibit maltase-glucoamylase, an enzyme present in polymorphonuclear neutrophils that contributes to the total α-glucosidase activity at acidic pH.
What is McArdle?
Glycogen storage disease type V (also known as GSDV or McArdle disease) 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.
Who treats Pompe disease?
Specialist teams (heart doctors, respiratory therapists, neurologists, etc.) can treat symptoms and offer supportive care for those with Pompe disease. Ask your doctors about details for each specific case. Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission.
What causes Pompe disease?
Pompe disease is caused by mutations in the alpha-glucosidase gene, GAA . Pompe disease is a glycogen storage disease.
How is Pompe disease treated?
The most common treatment for Pompe disease patients at the moment is enzyme replacement therapy ( ERT ). In ERT, excessive glycogen deposits are broken down by injecting patients with the enzyme GAA every two weeks.
What is the treatment for Pompe disease?
At this time there is no cure for Pompe disease. There is one FDA approved treatment called Myozyme which is an enzyme replacement therapy produced by Genzyme Therapeutics. Enzyme replacement therapy (ERT) works by replacing some of the missing enzyme in Pompe disease patients’ bodies through lifetime IV infusions of Myozyme every other week.
