Pompe Disease (Acid Maltase Deficiency)

What is Pompe Disease?

Pompe disease is named after Johannes C. Pompe, a Dutch doctor who first described the disorder in 1932 in an infant patient.  The disease is rare affecting around 1:40,000. Pompe Disease is also referred to as acid maltase deficiency (AMD) or glycogen storage disease type II (GSDII) and is an autosomal recessive disorder. The symptoms are caused by a deficiency of the lysosomal enzyme acid-α-glucosidase (GAA).  For more information on Pompe Disease click here

Newly Diagnosed?

The New Zealand Pompe Network is made up of people in NZ with Pompe Disease. You can make contact via the President Allyson on 0274069365 or 06 3704244  or [email protected] or through their website http://nzpompenetwork.weebly.com/