Body composition analysis in late-onset Pompe disease G.K. Papadimas a, ⁎, G. Terzis a,b , S. Methenitis b , K. Spengos a , C. Papadopoulos a , S. Vassilopoulou a , S. Kavouras c , H. Michelakakis d , P. Manta a a Department of Neurology, University of Athens, School of Medicine, Eginition Hospital, Athens, Greece b Laboratory of Track and Field, School of Physical Education and Sport Science, University of Athens, Greece c Laboratory of Nutrition and Clinical Dietetics, Harokopion University of Athens, Greece d Department of Enzymology and Cellular Function, Institute of Child Health, ‘Ag. Sophia’ Children's Hospital, Athens, Greece abstract article info Article history: Received 10 September 2010 Accepted 10 September 2010 Available online 16 September 2010 Keywords: Bone mineral density Pompe disease Enzyme replacement therapy 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. © 2010 Elsevier Inc. All rights reserved. 1. Introduction Pompe disease is an autosomal recessively inherited disease characterized by lysosomal glycogen accumulation caused by acid α-glucosidase (GAA) deficiency. The clinical features depend on the age of onset and the extent of organ involvement [1]. The most severe infantile form is devastating and rapidly fatal with cardiomyopathy, hypotonia, feeding difficulties and hepatomegaly, whereas the milder adult form is mainly characterized by proximal muscle weakness and respiratory involvement [2–4]. The introduction of enzyme replace- ment therapy (ERT) with recombinant human GAA has substantially modified the course of the disease, especially in infants [5], but preliminary studies also suggest clinical benefits among adults [3,6]. Recent evidence shows that altered body composition [7] and diminished bone mineral density (BMD), a common finding in the infantile form of the disease [8], may be also found in adults [9,10]. The aim of the present study was to evaluate body composition including regional and total BMD, total lean body mass (LBM) and fat tissue in patients with late onset Pompe disease by means of dual x- ray absorptiometry (DXA) scanning. 2. Materials and methods We present nine cases of late onset Pompe disease. The diagnosis was based on the deficient GAA activity in cultured fibroblasts and the molecular analysis of genomic DNA isolated from peripheral blood leukocytes. Muscle strength was measured by manual muscle testing according to the MRC (Medical Research Council) scale. A sumscore ranging from 0 to 40 was calculated for each patient by bilateral examination of shoulder abductors, elbow flexors, hip flexors and knee extensors. The stage of the disease was assessed by the modified Walton scale of muscle function [11], while body mass, height and body mass index (BMI) were also recorded. According to BMI, subjects were classified as: severely underweight (b 16.5), underweight (16.6–18.4), normal (18.5–24.9), overweight (25–29.9), class I obesity (30–34.9), class II obesity (35–39.9), class III obesity (N 40). Body composition analysis was performed with DXA in all the patients studied. No approval was needed by Ethics Committee, as this test is routinely performed in patients with muscle diseases. A total body scan, a femur scan, and a lumbar scan, were performed (DXA model DPX- L, LUNAR Radiation, Madison, WI, USA) and analyzed using the LUNAR Radiation body composition program. Fat mass, LBM and BMD were determined for the total body, arms, legs and trunk. Two different investigators performed all analyses and the mean value was used for further analyses. For the purpose of this study, the following values according to the World Health Organization standards were used: normal = BMD z score greater than -1, osteopenia = BMD z score Molecular Genetics and Metabolism 102 (2011) 41–43 ⁎ Corresponding author. University of Athens, School of Medicine, 1st Department of Neurology, Eginition Hospital, 74, Vas. Sophias Ave., 11528 Athens, Greece. Fax: + 30 2107216474. E-mail address: gkpapad@yahoo.gr (G.K. Papadimas). 1096-7192/$ – see front matter © 2010 Elsevier Inc. All rights reserved. doi:10.1016/j.ymgme.2010.09.002 Contents lists available at ScienceDirect Molecular Genetics and Metabolism journal homepage: www.elsevier.com/locate/ymgme