Format

Send to

Choose Destination
See comment in PubMed Commons below
Adv Ther. 2008 Aug;25(8):820-9. doi: 10.1007/s12325-008-0086-y.

Enzyme replacement therapy in severe adult-onset glycogen storage disease type II.

Author information

1
Institute of Neurology IRCCS C Mondino, University of Pavia, Pavia, Italy. sabrina.ravaglia@mondino.it

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.

PMID:
18704279
DOI:
10.1007/s12325-008-0086-y
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center