Features and diagnostic value of body composition in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Abstract

This study aims to analyse the body composition features and its changes after treatment in patients with late-onset multiple acyl-CoA dehydrogenase deficiency (MADD). Body composition was measured in patients with late-onset MADD, inflammatory myopathies, mitochondrial myopathy, and healthy controls. The correlation analyses between body composition and traditional parameters were performed. Comparisons between groups and receiver operating characteristic curve analyses were performed. A total of 42 participants included 13 patients with late-onset MADD, 13 healthy controls, 10 with inflammatory myopathy, and 6 with mitochondrial myopathy. Bilateral grip strength and forced vital capacity (FVC) were moderate-strong correlated with skeletal muscle mass (right hand grip strength: r = 0.728, P < 0.001; left hand grip strength: r = 0.676, P < 0.001; FVC: r = 0.754, P < 0.001). Serum CK was moderately and negatively correlated with right hand grip strength (r = - 0.618, P = 0.005), left hand grip strength (r = - 0.630, P = 0.004), FVC (r = - 0.665, P = 0.002), manual muscle testing (MMT) (r = - 0.729, P = 0.000), and lean body mass skeletal muscle percentage (r = - 0.501, P = 0.029). Body composition features in patients with late-onset MADD were as follows: (1) obvious fat accumulation, (2) reduction of muscle mass, and (3) reduction of body water and intracellular water ratio. Some indicators of body composition were found to be valuable in diagnosis and eliminating differential diagnoses, such as visceral fat area (sensitivity 84.62%; specificity 92.31%; AUC 0.905) and fat mass (sensitivity 84.62%; specificity 75.00%; AUC 0.837). Seven patients were followed-up (2-9months). Prior to treatment, the changes in body composition in these patients were conflicting. Hand grip strength and FVC were strongly associated with body composition. Body composition features in late-onset MADD are fat accumulation, muscle loss, decrease in total body water, and intracellular water ratio. Body composition features are valuable for diagnosis and assessment.