title: Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.
abstract: Pompe's disease is a fatal muscular disorder caused by lysosomal alpha-glucosidase deficiency. In an open-label study, four babies with characteristic cardiomyopathy were treated with recombinant human alpha-glucosidase (rhGAA) from rabbit milk at starting doses of 15 mg/kg or 20 mg/kg, and later 40 mg/kg. The enzyme was generally well tolerated. Activity of alpha-glucosidase normalised in muscle. Tissue morphology and motor and cardiac function improved. The left-ventricular-mass index decreased significantly. We recommend early treatment. Long-term effects are being studied.
authors.forename: H
authors.initials: H
authors.lastname: Van den Hout
authors.forename: A J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: A G
authors.initials: AG
authors.lastname: Vulto
authors.forename: M C
authors.initials: MC
authors.lastname: Loonen
authors.forename: A
authors.initials: A
authors.lastname: Cromme-Dijkhuis
authors.forename: A T
authors.initials: AT
authors.lastname: Van der Ploeg
mesh_terms: D000818:Animals; D030801:Animals, Genetically Modified; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000188:drug therapy; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000188:drug therapy*; D006801:Humans; D008892:Milk / Q000737:chemistry; D011817:Rabbits; D011994:Recombinant Proteins / Q000302:isolation & purification / Q000627:therapeutic use; D000520:alpha-Glucosidases / Q000302:isolation & purification / Q000627:therapeutic use*
chemical_list: D011994:Recombinant Proteins; D000520:alpha-Glucosidases