What are the symptoms of acid maltase deficiency disease?
Signs and symptoms of acid maltase deficiency
- Early hypotonia.
- Massive cardiomegaly, soft murmur, and heart failure.
- Weakness and depressed or absent muscle stretch reflexes.
- Macroglossia.
- Moderate hepatomegaly.
- Mental retardation.
- “Metabolic” anterior horn cell pathology (uncommon)
What causes acid maltase deficiency?
What causes acid maltase deficiency? Acid maltase deficiency results from a defect in the gene for the acid maltase enzyme (also known as acid alphaglu cosidase) that prevents the breakdown of glycogen (stored sugar).
How is Pompe disease diagnosed?
While enzyme activity tests are the main diagnostic approaches when Pompe disease is suspected, genetic testing also may be requested. The aim of genetic testing is to identify disease-causing mutations in the GAA gene; this is often done with a sample of blood or saliva.
What is Pompeii syndrome?
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
How is maltase deficiency treated?
Enzyme replacement therapy (ERT) is an approved treatment for all patients with Pompe disease. It involves the intravenous administration of recombinant human acid alpha-glucosidase (rhGAA).
What is 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.
How do you test for acid maltase deficiency?
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.
Why is maltase important?
Maltase is one of the most important enzymes in our digestive process, as it is a key enzyme in the mouth and the saliva. Without this important enzyme, the small intestine has a much harder time breaking down sugars and starches. In this way, maltase helps the entire digestive system function smoothly.