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Learn more about the symptoms and treatment of this disorder. Lysosomal storage disease program lysosomal storage disease information medical genetics and genomics pompe disease pompe disease is caused by mutations in the gaa gene It is an autosomal recessive inheritance, meaning both parents are genetic carriers of the disease but don’t have the disease itself.
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Find information about newborn screening for pompe disease, including causes, signs, symptoms, and treatment. Too much sugar builds up and damages your muscles and organs. Learn about pompe disease, including symptoms, causes, and treatments
If you or a loved one is affected by this condition, visit nord to find resources and
The clinical presentation of pompe disease is a spectrum between the cardiac and skeletal muscle dysfunction and has wide variability Pompe disease is a rare genetic condition that causes muscle weakness that gets worse over time It can have a serious effect on many of the body's systems Pompe disease is also called acid maltase deficiency disease and glycogen storage disease type ii
The younger a child is at diagnosis, the. Storage disease type ii.” it is an inherited acquiring a trait from one’s parents Most traits, such as eye color or hair color, are inherited from a parent through genes Disorder that affects many parts of the body, especially the heart and muscles
People with pompe disease have problems breaking down a sugar called glycogen.
Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy
