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Enzyme replacement therapy in severe adult-onset glycogen storage disease type II.
Adv Ther 2008; 25(8):820-9AT

Abstract

Glycogen storage disease type II (GSDII) is an autosomal recessive myopathy caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy (ERT) with recombinant GAA (rh-GAA) has become available for GSDII, although its effectiveness in adults remains unknown. We present a case of ERT with rhGAA in a 49-year-old male with GSDII in a severe stage of the disease. Quantitative magnetic resonance imaging showed an increase in muscle mass of the inferior limb, especially evident on the quadriceps femoris and the patient's body weight increased up to 30%, although his reported dietary habits were the same as before ERT. Beyond improvement in muscle strength and respiratory function, we observed a dramatic increase in body mass index from 12.7 to 16.6 kg/m(2). This may reflect a change from a catabolic state to a more balanced metabolic state during ERT.

Authors+Show Affiliations

Institute of Neurology IRCCS C Mondino, University of Pavia, Pavia, Italy. sabrina.ravaglia@mondino.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18704279

Citation

Ravaglia, Sabrina, et al. "Enzyme Replacement Therapy in Severe Adult-onset Glycogen Storage Disease Type II." Advances in Therapy, vol. 25, no. 8, 2008, pp. 820-9.
Ravaglia S, Danesino C, Pichiecchio A, et al. Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. Adv Ther. 2008;25(8):820-9.
Ravaglia, S., Danesino, C., Pichiecchio, A., Repetto, A., Poloni, G. U., Rossi, M., ... Costa, A. (2008). Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. Advances in Therapy, 25(8), pp. 820-9. doi:10.1007/s12325-008-0086-y.
Ravaglia S, et al. Enzyme Replacement Therapy in Severe Adult-onset Glycogen Storage Disease Type II. Adv Ther. 2008;25(8):820-9. PubMed PMID: 18704279.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. AU - Ravaglia,Sabrina, AU - Danesino,Cesare, AU - Pichiecchio,Anna, AU - Repetto,Alessandra, AU - Poloni,Guy Umberto, AU - Rossi,Miriam, AU - Fratino,Pietro, AU - Moglia,Arrigo, AU - Costa,Alfredo, PY - 2008/8/16/pubmed PY - 2009/1/23/medline PY - 2008/8/16/entrez SP - 820 EP - 9 JF - Advances in therapy JO - Adv Ther VL - 25 IS - 8 N2 - Glycogen storage disease type II (GSDII) is an autosomal recessive myopathy caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy (ERT) with recombinant GAA (rh-GAA) has become available for GSDII, although its effectiveness in adults remains unknown. We present a case of ERT with rhGAA in a 49-year-old male with GSDII in a severe stage of the disease. Quantitative magnetic resonance imaging showed an increase in muscle mass of the inferior limb, especially evident on the quadriceps femoris and the patient's body weight increased up to 30%, although his reported dietary habits were the same as before ERT. Beyond improvement in muscle strength and respiratory function, we observed a dramatic increase in body mass index from 12.7 to 16.6 kg/m(2). This may reflect a change from a catabolic state to a more balanced metabolic state during ERT. SN - 0741-238X UR - https://www.unboundmedicine.com/medline/citation/18704279/Enzyme_replacement_therapy_in_severe_adult_onset_glycogen_storage_disease_type_II_ L2 - https://dx.doi.org/10.1007/s12325-008-0086-y DB - PRIME DP - Unbound Medicine ER -