Learn About Pompe Disease
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.
Mutations in the GAA gene cause Pompe disease. 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. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells.
Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups.
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.
Raffaella Colzani is an Endocrinologist in Worcester, Massachusetts. Dr. Colzani and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Hashimoto Thyroiditis, and Pompe Disease.
Baystate Medical Practices Inc
Douglas Johnson is a Pulmonary Medicine provider in Springfield, Massachusetts. Dr. Johnson and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Obstructive Sleep Apnea, Chronic Obstructive Pulmonary Disease (COPD), Lung Metastases, and Swyer-James Syndrome.
Baystate Medical Practices Inc
Mary-alice Abbott is a Medical Genetics specialist and a Pediatrics provider in Springfield, Massachusetts. Dr. Abbott and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, Mucopolysaccharidoses (MPS), and Danon Disease.
Summary: Pompe disease is a genetic condition which causes muscle weakness over time. People with Pompe disease have a faulty gene that makes an enzyme called acid alpha-glucosidase (or GAA). This enzyme breaks down a type of sugar called glycogen. Without this enzyme, there is a build-up of glycogen in the cells of the body. This causes muscle weakness and other symptoms. Pompe disease can happen at any a...
Summary: This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD). Both untreated patients and those being treated with an approved therapy for Pompe disease are eligible to participate. The objectives of the registry are: * To evaluate the long-term safety of Pompe diseas...
Published Date: February 01, 2016
Published By: National Institutes of Health
Pompe Alliance provides supportive services, education and information to patients, caregivers, medical professionals and community stakeholders involved with Pompe disease.