Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III

Molecular Genetics and Metabolism

Volumn 108, Issue 2, 2013, Pages 145-147

  Sun, Baodong ^a   Fredrickson, Keri ^a   Austin, Stephanie ^a   Tolun, Adviye A ^a   Thurberg, Beth L ^b   Kraus, William E ^a   Bali, Deeksha ^a   Chen, Yuan Tsong ^a   Kishnani, Priya S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b SANOFI   (France)

Author keywords

Alglucosidase alfa; Glycogen degradation; Glycogen storage disease type III; GSD III; Novel therapy; Primary skeletal muscle culture; RhGAA

Indexed keywords

GLYCOGEN; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; CASE REPORT; ENZYME REPLACEMENT; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 3; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE CELL; MYOBLAST; PRIORITY JOURNAL; SKELETAL MUSCLE;

ADULT; ALPHA-GLUCOSIDASES; ENZYME REPLACEMENT THERAPY; FEMALE; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; TREATMENT OUTCOME;

EID: 84873060132     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.12.002     Document Type: Article

References (16)

1. Huijing F. Glycogen metabolism and glycogen-storage diseases. Physiol. Rev. 1975, 55:609-658.
2. Shen J.J., Chen Y.T. Molecular characterization of glycogen storage disease type III. Curr. Mol. Med. 2002, 2:167-175.
3. Chen Y.T., Kishnani P.S., Koeberl D.D. Glycogen storage diseases. Scriver's Online Metabolic & Molecular Bases of Inherited Disease 2009, McGraw-Hill, New York. D. Valle, A. Beaudet, B. Vogelstein, K. Kinzler, S. Antonarakis, A. Ballabio (Eds.).
4. Kishnani P.S., Austin S.L., Arn P., Bali D.S., Boney A., Case L.E., Chung W.K., Desai D.M., El-Gharbawy A., Haller R., Smit G.P., Smith A.D., Hobson-Webb L.D., Wechsler S.B., Weinstein D.A., Watson M.S. Glycogen storage disease type III diagnosis and management guidelines. Genet. Med. 2010, 12:446-463.
5. Lynch C.M., Johnson J., Vaccaro C., Thurberg B.L. High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology. J. Histochem. Cytochem. 2005, 53:63-73.
6. Muoio D.M., Way J.M., Tanner C.J., Winegar D.A., Kliewer S.A., Houmard J.A., Kraus W.E., Dohm G.L. Peroxisome proliferator-activated receptor-alpha regulates fatty acid utilization in primary human skeletal muscle cells. Diabetes 2002, 51:901-909.
7. DiMauro S., Mellman W.J. Glycogen metabolism of human diploid fibroblast cells in culture. II. Factors influencing glycogen concentration. Pediatr. Res. 1973, 7:745-750.
8. Sun B.D., Chen Y.T., Bird A., Amalfitano A., Koeberl D.D. Long-term correction of glycogen storage disease type II with a hybrid Ad-AAV vector. Mol. Ther. 2003, 7:193-201.
9. Valayannopoulos V., Bajolle F., Arnoux J.B., Dubois S., Sannier N., Baussan C., Petit F., Labrune P., Rabier D., Ottolenghi C., Vassault A., Broissand C., Bonnet D., de Lonlay P. Successful treatment of severe cardiomyopathy in glycogen storage disease type III With d, l-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr. Res. 2011, 70:638-641.
10. Dagli A.I., Zori R.T., McCune H., Ivsic T., Maisenbacher M.K., Weinstein D.A. Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet. J. Inherit. Metab. Dis. 2009, 32(Suppl 1):S103-S106.
11. Cornelio F., Bresolin N., Singer P.A., DiMauro S., Rowland L.P. Clinical varieties of neuromuscular disease in debrancher deficiency. Arch. Neurol. 1984, 41:1027-1032.
12. Berggren J.R., Tanner C.J., Houmard J.A. Primary cell cultures in the study of human muscle metabolism. Exerc. Sport Sci. Rev. 2007, 35:56-61.
13. Gati I., Danielsson O., Betmark T., Ernerudh J., Ollinger K., Dizdar N. Effects of inhibitors of the arachidonic acid cascade on primary muscle culture from a Duchenne muscular dystrophy patient. Prostaglandins Leukot. Essent. Fatty Acids 2007, 77:217-223.
14. Merickel M., Gray R., Chauvin P., Appel S. Cultured muscle from myotonic muscular dystrophy patients: altered membrane electrical properties. Proc. Natl. Acad. Sci. U. S. A. 1981, 78:648-652.
15. Raben N., Danon M., Gilbert A.L., Dwivedi S., Collins B., Thurberg B.L., Mattaliano R.J., Nagaraju K., Plotz P.H. Enzyme replacement therapy in the mouse model of Pompe disease. Mol. Genet. Metab. 2003, 80:159-169.
16. Yi H., Thurberg B.L., Curtis S., Austin S., Fyfe J., Koeberl D.D., Kishnani P.S., Sun B. Characterization of a canine model of glycogen storage disease type IIIa. Dis. Model. Mech. 2012, 5:804-811.