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Sep 22, 2023 · Pompe disease is a type of glycogen storage disease, a genetic condition in which a complex sugar called glycogen builds up in your body’s cells. The disease results from the deficiency of a digestive enzyme called acid alpha-glucosidase (GAA).
Nov 28, 2023 · What is Pompe disease? Pompe disease (also known as acid-maltase disease and glycogen storage disease II) is a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles.
Jan 18, 2024 · Pompe disease is a rare disease continuum with variable rates of disease progression and different ages of onset. First symptoms can occur at any age from birth to late adulthood. Earlier onset compared to later onset is usually associated with faster progression and greater disease severity.
Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or LGMD2V, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body.
Jun 10, 2022 · Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs. Pompe...
May 6, 2022 · Pompe disease is a rare genetic condition that affects only 1 person in 40,000 in the United States. Early onset tends to have lower survival rates.
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. Explore symptoms, inheritance, genetics of this condition.
Pompe disease, also known as acid maltase deficiency (AMD) or glycogen storage disease II, is a rare, inherited glycogen storage disease. that afects the heart and skeletal muscles. There are two types of Pompe disease: infantile-onset and noninfantile-onset (juvenile or adult).
Dec 22, 2020 · Pompe disease is a rare genetic condition that causes an abnormal buildup of glycogen, a sugar molecule, inside your cells. That buildup can impair how some of your organs and tissues function. The most commonly affected body areas are the heart, respiratory system , and skeletal muscles.
Aug 31, 2007 · Traditionally, Pompe disease has been separated into two major phenotypes – infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) –based on age of onset, organ involvement (i.e., presence of cardiomyopathy), severity, and rate of progression.
