title: Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.
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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
authors.forename: Haiqing
authors.initials: H
authors.lastname: Yi
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
authors.forename: Fengqin
authors.initials: F
authors.lastname: Gao
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Austin
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
authors.forename: Baodong
authors.initials: B
authors.lastname: Sun
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