Format

Send to

Choose Destination
See comment in PubMed Commons below
Mol Genet Metab. 2011 Jan;102(1):41-3. doi: 10.1016/j.ymgme.2010.09.002. Epub 2010 Sep 16.

Body composition analysis in late-onset Pompe disease.

Author information

1
Department of Neurology, University of Athens, School of Medicine, Eginition Hospital, Athens, Greece. gkpapad@yahoo.gr

Abstract

Pompe disease is an inherited metabolic disorder caused by α-glycosidase deficiency. The adult onset form is mainly characterized by progressive proximal muscle weakness and respiratory dysfunction. The aim of the present study is to evaluate body composition in adult patients before and after enzyme replacement therapy (ERT). Body composition was examined at baseline by means of dual x-ray absorptiometry (DXA) in nine adult patients and after different time periods in six of them who received ERT. Total BMD (bone mineral density) was initially mildly decreased in two patients, while femoral neck BMD was decreased in five patients. On the other hand fat mass was increased in the majority of patients, while body mass index (BMI) was high in four. ERT administration did not seem to induce obvious BMD changes in any patient. Conclusively, the greater femoral neck BMD involvement may be attributed to the lower mechanical load applied by the selectively weakened muscles, whereas the increased fat mass may be the result of metabolic and nutritional derangement.

PMID:
20926325
DOI:
10.1016/j.ymgme.2010.09.002
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center