AIM: Body composition evaluation in patients with galactosemia and its variants. METHODS: The body composition of young subjects with galactose metabolic disorders was analyzed with dual X-ray absorptiometry. The subjects were divided into the classic galactosemia (CG; n=14) group and the group with other galactose metabolic disorders (OGMD, e.g., epimerase deficiency; n=8). RESULTS: In both groups, bone strength and bone mineral density Z-scores were normal. However, CG patients appeared sarcopenic (median muscle mass Z-score=-1.93), whereas OGMD subjects had low-normal muscle mass. In addition, approximately half of all patients were overweight. In CG patients, bone mass was strongly correlated to muscle mass (r=0.81), whereas in OGMD patients it was positively correlated to body mass index (r=0.78). CONCLUSIONS: An imbalance between muscle and fat mass, especially in patients with classic galactosemia, was observed. Given the observed strong correlation between bone and muscle mass, more effective lifestyle counseling is needed.
AIM: Body composition evaluation in patients with galactosemia and its variants. METHODS: The body composition of young subjects with galactose metabolic disorders was analyzed with dual X-ray absorptiometry. The subjects were divided into the classic galactosemia (CG; n=14) group and the group with other galactose metabolic disorders (OGMD, e.g., epimerase deficiency; n=8). RESULTS: In both groups, bone strength and bone mineral density Z-scores were normal. However, CG patients appeared sarcopenic (median muscle mass Z-score=-1.93), whereas OGMD subjects had low-normal muscle mass. In addition, approximately half of all patients were overweight. In CG patients, bone mass was strongly correlated to muscle mass (r=0.81), whereas in OGMD patients it was positively correlated to body mass index (r=0.78). CONCLUSIONS: An imbalance between muscle and fat mass, especially in patients with classic galactosemia, was observed. Given the observed strong correlation between bone and muscle mass, more effective lifestyle counseling is needed.
Authors: Britt van Erven; Lindsey Welling; Sandra C van Calcar; Artemis Doulgeraki; François Eyskens; Joanna Gribben; Eileen P Treacy; Rein Vos; Susan E Waisbren; M Estela Rubio-Gozalbo; Annet M Bosch Journal: JIMD Rep Date: 2016-12-20