Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV

Haiqing Yi; Fengqin Gao; Stephanie Austin; Priya S Kishnani; Baodong Sun

doi:10.1016/j.ymgmr.2016.09.008

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV

Mol Genet Metab Rep. 2016 Oct 4:9:31-33. doi: 10.1016/j.ymgmr.2016.09.008. eCollection 2016 Dec.

Authors

Haiqing Yi¹, Fengqin Gao¹, Stephanie Austin¹, Priya S Kishnani¹, Baodong Sun¹

Affiliation

¹ Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.

Abstract

Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 weeks significantly reduced hepatic glycogen accumulation, lowered liver/body weight ratio, and reduced plasma ALP and ALT activities in GSD IV mice. Our data suggests that rhGAA is a potential therapy for GSD IV.

Keywords: ALT, alanine aminotransferase; AST, aspartate aminotransferase; Alglucosidase alfa; ERT, enzyme replacement therapy; GAA, acid α-glucosidase; GBE, glycogen branching enzyme; GSD IV, glycogen storage disease type IV; Glycogen storage disease type IV; Liver; M6PR, mannose-6-phosphate receptor; Recombinant human acid-α glucosidase.