Irini Manoli, Justin R Sysol, PamelaSara E Head, Madeline W Epping, Oksana Gavrilova, Melissa K Crocker, Jennifer L Sloan, Stefanos A Koutsoukos, Cindy X Wang, Yiouli P Ktena, Sophia Mendelson, Alexandra R Pass, Patricia M Zerfas, Victoria J Hoffmann, Hilary J Vernon, Laura A Fletcher, James C Reynolds, Maria G Tsokos, Constantine A Stratakis, Stephan D Voss, Kong Y Chen, Rebecca J Brown, Ada Hamosh, Gerard T Berry, Xiaoyuan Chen, Jack A Yanovski, Charles P Venditti
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper and lower extremities fat deposition and paucity of visceral fat, that resembles familial multiple lipomatosis syndrome. To explore brown and white fat physiology in methylmalonic acidemia (MMA), body composition, adipokines and inflammatory markers were assessed in 46 MMA subjects and 99 matched controls...
January 25, 2024: JCI Insight