By Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
JIMD studies publishes case and brief examine studies within the region of inherited metabolic problems. Case stories spotlight a few strange or formerly unrecorded function correct to the illness, or function a major reminder of medical or biochemical positive aspects of a Mendelian disorder.
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Additional info for JIMD Reports, Volume 18
Acknowledgments We are grateful to Genzyme Corporation for the supply of anti-GAA antibody and to our colleagues in the Division of Gene Therapy for their excellent technical assistance. ). Synopsis Bortezomib improves the function of multiple GAA mutants in Pompe disease. Compliance with Ethics Guidelines Conflict of Interest Disclosures Yoshikatsu Eto has received grant support from Genzyme Corporation. Hiroyuki Ida has received grant support from Genzyme Corporation. Toya Ohashi has received grant support from Genzyme Corporation.
The lateonset form typically displays some residual GAA activity and manifests as slowly progressive respiratory failure and muscle weakness without cardiac involvement (van der Ploeg and Reuser 2008). In 2006, enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) was approved for the treatment of Pompe disease. ERT extends life expectancy, improves cardiac muscle pathology and walking distance, and stabilizes pulmonary function in patients with Pompe disease (Kishnani et al. 2007; van der Ploeg et al.
In the cohort followed by the European Study on Glycogen Storage Disease Type I, three cases demonstrated remission of the HCAs, but no further details about these cases were reported (Rake et al. 2002a, b). These findings suggest that if HCAs are documented in a patient with suboptimal metabolic control, intensive medical therapy should be considered before recommending surgical excision or liver transplantation. These observations add to the body of evidence showing that optimal metabolic control may delay, prevent, or reverse complications in patients with GSD I.
JIMD Reports, Volume 18 by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters