- Pompe Disease: Symptoms Treatment - Cleveland Clinic
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) GAA normally breaks down complex sugars in your body
- Pompe Disease - Symptoms, Causes, Treatment | NORD
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
- Pompe Disease | Newborn Screening
There are three types of Pompe disease that differ in signs and symptoms and age of onset These three types are known as classic infantile-onset, nonclassic infantile-onset, and late-onset The type your baby has depends on how well their body can break down glycogen
- Pompe disease diagnosis and management guideline - PMC
Pompe disease is a rare, progressive, and often fatal muscular disease The underlying pathology is a deficiency of the enzyme acid alpha-glucosidase (GAA) that hydrolyzes lysosomal glycogen
- Pompe Disease: Types, Symptoms, Treatments, Outcome - Healthline
Pompe disease is a complex inherited condition that requires a specialized team of healthcare professionals, who can treat and monitor symptoms as well as provide ongoing care
- Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview
Pompe disease, also known as glycogen storage disease type II (GSD II) or acid maltase deficiency (AMD), is a genetic disorder caused by a deficiency of the acid alpha-glucosidase (GAA) enzyme, due to recessive mutations in the GAA gene, which leads to accumulation of lysosomal glycogen [1], diffusely but primarily affecting the skeletal and car
- How Is Pompe Disease Treated? - WebMD
To get the best care for Pompe disease, you need treatment from a team of health care professionals Here’s what treatment for you or your child may include
- What is Pompe Disease - Muscular Dystrophy Association
Pompe is classified as a metabolic muscle disorder, one of a group of diseases that interferes with processing and storage of complex sugars (carbohydrates) The build-up of sugar molecules in muscle cells causes them to break down
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