Pompe disease is a rare, progressive, autosomal recessively inherited metabolic disorder, and is often a fatal muscular disease that affects one of the lysosomal enzymes. Pompe disease can also be called as a glycogen storage disease or acid alpha-glycosidase deficiency or GAA deficiency. It mainly occurs due to accumulation of glycogen in some tissues and organs, particularly muscles, leading to abnormal functioning. Read Report Overview - https://www.transparencymarketresearch.com/pompe-disease-market.html The inability of breaking the lysosomal glycogen lies in the mutation of a gene responsible for production of the enzyme acid alpha-glycosidase. This enzyme breaks glycogen into simpler form i.e. glucose but a mutation in the GAA gene prevents this activity. The stoppage of glycogen breakdown causes massive cellular dysfunction, with the marked involvement of the cardiac, smooth, and skeletal muscle. Pompes disease is categorized on the basis of disease severity, disease progression and age, such as infantile-onset, non-classic infantile-onset and late onset. Within few months of birth, the infantile onset of Pompes disease starts showing its symptoms such as enlarged liver(hepatomegaly),muscle weakness(myopathy), heart defect, and poor muscle tone (hypotony). Request Brochure of Report - https://www.transparencymarketresearch.com/sample/sample.php? flag=B&rep_id=14102 The infants affected with this disease face challenges of weight gain as well as hampered growth and breathing problems. The affected infant may have large protruding tongue. If untreated, the infant may die of heart failure in the first year of life itself. Non-Classic infantile-onset is usually seen at the age of 1 year. The disease symptoms include poor motor skills and a delayed muscle progress. They may show signs of hearing impairment and abnormally large heart. The muscle weakness may seriously lead to breathing problems. The Late-onset marks its symptoms by later stages of childhood, adolescent age or in adulthood. This form of late onset is a bit milder than the previous ones and doesn’t involve heart. The muscle weakness is generally observed in the legs, trunk and breathing muscles. The progress of the disorder in the muscles controlling breathing will ultimately lead to the respiratory failure. Request Brochure of Report - https://www.transparencymarketresearch.com/sample/sample.php? flag=B&rep_id=14102 Pompes disease can occur in various age groups and population across the world. The occurrence of the disease is 1 in 40,000 births in the U.S. In many cases, the people suffering from Pompes Disease in late onset of the disease remain undiagnosed. The symptoms of Pompes Disease are observed due to the complete or partial deficiency of the GAA enzyme. Diagnosis of Pompe disease can be performed by GAA activity assay. Following are the tests for the detection of Pompe disease: Sequencing of the GAA gene GAA activity assay in blood, cultured amniocytes, chorionic villi and cultured skin fibroblasts. The marker, urinary hexose tetrasaccharide can be used to keep a track of patients suffering from Pompe disease
Issuu converts static files into: digital portfolios, online yearbooks, online catalogs, digital photo albums and more. Sign up and create your flipbook.