Pompe disease

Overview

Are there other names for Pompe disease?

Pompe disease is also called acid maltase deficiency, as well as glycogen storage disease type 2 because glycogen builds up in the body. There are several other types of glycogen storage diseases which are caused by changes in genes other than GAA. Some of these other glycogen storage diseases may have overlapping symptoms with Pompe disease, so it is important to have the right testing done to confirm if an individual truly has Pompe disease. The best person to help figure out if someone has Pompe disease is your primary care physician, who can order testing or make referrals to the appropriate specialists.

Leslie, N., MD, & Tinkle, B. T., MD, PhD. (2007, August 31). Glycogen Storage Disease Type II (Pompe Disease) Synonyms: Acid Alpha-Glucosidase Deficiency, Acid Maltase Deficiency, GAA Deficiency, GSD II, Glycogenosis Type II. Retrieved February 26, 2016, from http://www.ncbi.nlm.nih.gov/books/NBK1261/

AMDA - Acid Maltase Deficiency Association

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