Metformin therapy to facilitate weight loss in adults with classic maple syrup urine disease.
Document Type
Article
Publication Date
3-2026
Abstract
Surplus calories are used to prevent protein catabolism in patients with maple syrup urine disease (MSUD) but can also lead to obesity and its related complications. At present, there are no evidence-based guidelines to inform weight loss strategies for patients with inborn errors of metabolism. Obese MSUD patients often resist weight loss due to the fear of metabolic decompensation, and their dietary options are limited by dependence on medical foods with fixed nutritional composition. We examined the anthropometric and biochemical effects of metformin in nine adults with severe (classic) MSUD who were instructed to reduce their calorie intake from medical food by 10%. Eight participants (67% female) completed the 52-week study; one withdrew following elective liver transplantation. Baseline median age, body mass index (BMI), and glycosylated hemoglobin (HgbA1C) were 33.8 years (IQR 25.3-41.6), 38.3 kg/m
Publication Title
Molecular genetics and metabolism
Volume
147
Issue
3
First Page
109730
Last Page
109730
Recommended Citation
Rodrigues, A., Sweigert, E., Robinson, D., Kregel, M., Williamson, J., Koehler, A., Schreckengast, S., Forry, C., Loeven, K., Puffenberger, E., McVey, A., Hendrickson, C., Patel, A., Thomas, A., Thomas, S., Brigatti, K., Strauss, K., & Meier, G. (2026). Metformin therapy to facilitate weight loss in adults with classic maple syrup urine disease.. Molecular genetics and metabolism, 147 (3), 109730-109730. https://doi.org/https://doi.org/10.1016/j.ymgme.2026.109730