Glycogenosis Type II, also known as Pompe disease, is a rare inherited autosomal recessive metabolic disorder characterized by the deficiency or absence of an enzyme known as acid alpha-glucosidase (GAA) or acid maltase. This enzyme plays a crucial role in breaking down glycogen, a complex sugar molecule, into glucose, which is a primary source of energy for the body's cells.
In individuals with Glycogenosis Type II, the lack or impairment of GAA leads to the accumulation of glycogen in various tissues, particularly in the muscles and certain organs such as the heart, liver, and respiratory system. The excessive glycogen deposition causes these tissues to function abnormally, leading to a wide range of symptoms.
Early-onset Pompe disease usually presents within the first few months of life, causing severe muscle weakness (hypotonia), feeding difficulties, failure to thrive, and breathing problems. In contrast, late-onset Pompe disease can manifest at any age and primarily affects the muscles, causing progressive muscle weakness, respiratory difficulties, and sometimes heart problems.
Diagnosis of Glycogenosis Type II is typically confirmed through laboratory testing that measures the GAA enzyme activity or genetic testing to identify mutations in the GAA gene. Although there is currently no cure for this disorder, various treatment options are available, including enzyme replacement therapy (ERT), which involves regular intravenous infusions of the missing enzyme.
Management focuses on symptom relief, maintaining muscle function, and addressing complications such as respiratory and cardiac issues. A multidisciplinary approach involving specialists from various fields is often necessary to address the specific needs of individuals with Glycogenosis Type II.
