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.
Haiqing Yi  1 ,  Fengqin Gao  1 ,  Stephanie Austin  1 ,  Priya S Kishnani  1 ,  Baodong Sun  1
Affiliations
  • 1. Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
PMID: 27747161 DOI: 10.1016/j.ymgmr.2016.09.008
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.
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