An autosomal recessive disorder genetic condition storage disease disorder where the enzyme called enzyme, alpha-glucosidase is deficient or one does not have the ability to make it or its not working as it should.
It is also known as glycogen storage disease type II (GSD-II)
These enzymes in our body cells (the part of the body cell is called lysosome) to clean up and dispose of a long chains of sugar molecules (glycogen) in the body otherwise unable to break down.
This build up mainly affects the body’s muscles, leading to widespread muscle weakness causing organ and tissue damage.
There are two forms of Pompe disease which are infantile-onset and late-onset
Infantile-onset
Severe form of Pompe disease.
The condition usually appears within the first few months of life and normally live until their first birthday and maybe beyond with medical intervention.
Infants are weak and have trouble holding up their heads.
Late-onset Pompe disease
Starts with symptoms of muscle weakness which can begin anytime from early childhood through to adulthood (normally the lower half of the the body than upper half).
Cause
Enzyme, alpha-glucosidase is deficient or one does not have the ability to make it or its not working as it should.
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting the condition), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected)
Source: www.stanfordchildrens.org
Symptoms
Failure to grow and gain weight (failure to thrive)?
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Pompe Disease in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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