Glycogen Storage Disease Type II

Glycogen Storage Disease Type II [GAA]: A malfunction in the enzyme acid alphaglucosidase resulting in toxic sugar buildup. There are 3 types of Pompe disease: classic infantile-onset (symptoms include: muscle weakness, poor muscle tone, failure to thrive, heart defects leading to death in the first year of life), non-classic infantile-onset (the following symptoms are usually apparent in the first year of life: delayed motor milestones, progressive muscle weakness, serious breathing problems, leading to death in early childhood), and late-onset (progressive muscle weakness onsetting in adolescence or adulthood, especially in the legs and the trunk, breathing problems that can lead to respiratory failure).

Ashkenazi Jewish Carrier Frequency: 1 in 58

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 100