American clinicians, in collaboration with the patient organisation APBD Research Foundation, have investigated muscle-affecting disorders linked to the GBE1 gene, which encodes the glycogen branching enzyme:
- two phenotypes emerged from their study: early-onset type IV muscular glycogen storage disease (or Andersen’s disease, GSD IV) and polyglucosan storage disease affecting the adult population.
- Drawing on genomic data from the Broad Institute in Boston as part of the Rare Genomes project, the authors determined the frequency of healthy carriers of GSD IV to be approximately 1 in 243,
- the patient population was estimated at 34,800 worldwide, a significant figure.
The synergy between researchers, clinicians and patient representatives is strongly emphasised.
