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.
David Stockton is an Internal Medicine provider in Detroit, Michigan. Dr. Stockton and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, and Hydranencephaly.
Beaumont Medical Group- Specialty Services
Daniel Menkes is a Neurologist in Royal Oak, Michigan. Dr. Menkes and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy, Dysferlinopathy, and Myotonic Dystrophy. Dr. Menkes is currently accepting new patients.
Regents Of The University Of Michigan
Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider in Ann Arbor, Michigan. Dr. Quinonez and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Dihydrolipoamide Dehydrogenase Deficiency, Pompe Disease, Hypomelanosis of Ito, and Char Syndrome.
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...
Summary: Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases. The researchers hypothesise that some of these misdiagnosed patients carry pathogenic RNA (transcript) disrupting variants that were not identified by DNA sequencing. In fact, DNA sequencing analyses can be nega...
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.