Pompe Disease
What is it?
Pompe disease refers to a rare genetic condition which is characterized by build up of glycogen in the body cells due to inability to break it down. People who have it lack the enzyme called acid alpha glucosidase (GAA) which usually breaks down complex sugars. There are three types of Pompe disease:
The classic type, which appears within a few months after birth.
Non classic, which appears within a year.
And the late onset type, which could appear even in the teen years or adulthood.
Signs & symptoms
Symptoms may include muscle weakness, enlarged liver, failure to thrive, difficulty breathing, respiratory infections, hearing problems and feeding problems.
Diagnosis
Diagnosis is based upon findings from medical history and physical examination. Further evaluation may include lung function tests, electromyography, blood sample for enzyme levels, and DNA testing.
Treatment
Treatment includes an enzyme replacement therapy by glucosidase alpha.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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