Glycogenosis type IIIa is a deficiency in a debranching enzyme. It initially results in hepatic disorders but can classically lead to muscle disorders and increased fatigue from the third decade of life.
A muscle imaging study, supplemented by a serie of functional tests, was carried out in the United States in 17 sick children and 5 adults. Its results show that:
- the muscular damage, objectified in children on functional tests, is much earlier than previously estimated;
- it progresses into adulthood, as shown in whole body imaging studies;
- the deficit predominates in the proximal and axial musculature.