Prospective Follow-up of Patients With Glycogen Storage Disease Type III

Prospective Follow-up of Patients With Glycogen Storage Disease Type III

The aim of this study is to improve knowledge of natural history and methods of monitoring the evolution of Glycogen storage disease type III regarding the muscle and to study the prospective approach of large series of patients, and using the same protocol for the follow up of the children and adults.

Inclusion Criteria:

• patients with a debranching enzyme deficiency confirmed by enzymatic analysis (debranching enzyme deficiency).
• Written consent
• Age: at least 10 years
• Affiliated with a social security system

Exclusion Criteria:

• Pregnant and lactating women