Late onset Pompe

Question 1

ERT for LOPD

Answer 1

Enzymereplacementtherapy(ERT)withrecombinant humanalglucosidasealfa(rhGAA)(Myozyme®, Lumizyme®,Genzyme,Cambridge,MA)isavailable forIOPDandLOPD.

Question 2

Needed biomarkers for LOPD

Answer 2

There is a desperate need for sensitive biomarkers. In addition to serum CK levels and urinary excretion of tetrasaccharides (Hex4), an interesting potential biomarker is MR spectroscopy that can assess glycogen levels in tissue, and has been demonstrated to be useful in quantifying hepatic and muscle glycogen in glycogen storage diseases and other metabolic conditions