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Pompe Disease


Pompe disease is a rare genetic condition where the body is unable to break down complex sugars. This is due to a deficiency in an enzyme called acid alfa glucosidase (GAA). Mutations in the GAA gene causes this disorder and results in a build up of glycogen in cells. 


Pompe disease can appear in patients from within a few months of birth, at about 1 years old and even during the teenage years. 


Those with Pompe disease usually inherit the disease from their parents. However, the allele for the disease is recessive, and may not be expressed in the parents. This disease is typically associated with weak muscles, poor muscle tone and an enlarged liver. However, there are many complications with regards to the respiratory system and motor skills which can also develop. 


Enzyme replacement treatment is used for all Pompe patients. A drug called aglucosidase alfa is given intravenously, which acts as a replacement for GAA.


Sources:

https://my.clevelandclinic.org/health/diseases/15808-pompe-disease

https://www.mdpi.com/2218-273X/10/9/1339/htm

https://www.straitstimes.com/singapore/health/rare-disease-fund-now-covers-pompe-disease-a-rare-inherited-neuromuscular-disorder


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