Article on Transgenic EnzymeA protein that helps the body carry out chemical reactions. More Replacement Therapy
EnzymeA protein that helps the body carry out chemical reactions. More therapy for pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More with recombinant human alpha-glucosidase from rabbit milk
Van den Hout JM, Reuser AJ, de Klerk JB, Arts WF, Smeitink JA, Van der Ploeg AT.
Department of Pediatrics, Sophia Children’s Hospital, University Hospital Rotterdam, The Netherlands. vanderploeg@alkg.azr.nl
Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More is a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase. In this report we review the first 36 weeks of a clinical study on the safety and efficacy of enzymeA protein that helps the body carry out chemical reactions. More therapy aimed at correcting the deficiency. Four patients with infantile Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More were enrolled. They received recombinant human alpha-glucosidase from transgenic rabbit milk. The product is generally well tolerated and reaches the primary target tissues. Normalization of alpha-glucosidase activity in skeletal muscleMuscles that control movement and are commonly affected in Pompe disease. More was obtained and degradation of PAS-positive material was seen in tissue sections. The clinical condition of all patients improved. The effect on heart was most significant, with an impressive reduction of the left ventricular mass index (LVMI). Motor function improved. The positive preliminary results stimulate continuation and extension of efforts towards the realization of enzymeA protein that helps the body carry out chemical reactions. More therapy for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.