Body composition analysis in late-onset Pompe disease

Area of Science:

• Metabolic Disorders
• Neuromuscular Diseases
• Biochemistry

Background:

• Pompe disease is a rare inherited metabolic disorder resulting from acid α-glucosidase deficiency.
• The adult-onset form presents with progressive proximal muscle weakness and respiratory impairment.

Purpose of the Study:

• To assess body composition changes in adult Pompe disease patients before and after enzyme replacement therapy (ERT).

Main Methods:

• Dual-energy X-ray absorptiometry (DXA) was used to examine body composition in nine adult patients at baseline.
• Six patients were re-evaluated after varying periods of ERT.

Main Results:

• Initial findings revealed mildly decreased total bone mineral density (BMD) in two patients and decreased femoral neck BMD in five.
• The majority of patients exhibited increased fat mass, with four patients having a high body mass index (BMI).
• ERT did not appear to induce significant changes in BMD.

Conclusions:

• Reduced femoral neck BMD may correlate with decreased mechanical load from weakened muscles.
• Increased fat mass is likely due to metabolic and nutritional disturbances in Pompe disease.
• Body composition alterations in Pompe disease warrant further investigation regarding ERT efficacy.