Pompe Disease - Michigan Medicine
Pompe disease is a genetic disorder that leads to problems with breaking down glycogen. Glycogen is a type of sugar that is stored in our cells. Another name.
Clinical guidelines for late-onset Pompe disease - Orphanet
The confirmation of the diagnosis of Pompe disease must be made by means of an study of enzymatic activity in isolated lymphocytes or a mutation analysis of the ...
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) ...
Pompe disease - MedlinePlus
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells.
Pompe Disease - Illinois Department of Public Health
Definition. Pompe disease is an inherited metabolic disorder in which harmful amounts of glycogen accumulate within lysosomes of cells.
Newborn Screening for Pompe Disease - HRSA
Pompe disease, also known as Glycogen Storage. Disease Type II, is a genetic disorder caused by deficiency of the enzyme acid alpha-glucosidase. (GAA). As a ...
Pompe Disease
Pompe Disease is a rare genetic disorder. People with Pompe Disease have a change in a single gene called GAA. Normally, this gene makes the GAA enzyme, which ...
POMPE DISEASE - (Pom-PAY) What is Newborn Screening? - DHHS
Pompe disease is a recessive genetic condition, and therefore there is not usually a family history of it. My baby was found to have a pseudodeficiency allele.
Genetic Testing Options for Pompe Disease
Pompe disease is a rare but treatable condition that mainly affects the baby's muscles. Individuals with. Pompe disease cannot break down a certain type of.
Pompe Disease - Wadsworth Center
It is a lysosomal storage disorder. People with. Pompe disease have problems breaking down a sugar called glycogen. When, glycogen is not broken down, it builds ...
Pompe Disease
Pompe is also called acid maltase deficiency or glycogen storage disorder type II. It is caused by variants (or mutations) in the GAA gene. This gene carries.
Glycogen Storage Disorder Type II (Pompe)
CRIM negative (CN) means there is no residual. GAA enzyme activity. Pompe patients who are. CN produce anti-rhGAA antibodies and do not respond to ERT unless ...
Pompe Disease: What You Need to Know©2010
Pompe Disease. CAUSE. Pompe disease is an inherited condition that affects many different parts of the body. It is a lysosomal storage disorder. When a ...
Pompe disease - Labcorp Women's Health
Children with classic infantile-onset Pompe disease will usually have a severe deficiency of the acid alpha-glucosidase enzyme [1]. Without treatment, these ...
Pompe Disease - Virginia Department of Health
A baby with low acid alpha glucosidase (GAA) activity on their newborn screening specimen(s) may have Glycogen storage disorder type II (Pompe disease).
POMPE DISEASE (GSD II)
Pompe disease is also known as Acid Maltase Deficiency or. Glycogen Storage Disease type II. This condition is caused by the buildup of a complex sugar called ...
Pompe Disease
What is Pompe disease? Pompe disease is an inherited disorder characterized by muscle weakness, respiratory insufficiency and, in some.