Milankumar Prajapati, Jared Z Zhang, Lauren Chiu, Grace S Chong, Courtney J Mercadante, Heather L Kowalski, Bradley S Delaney, Jessica A Anderson, Shuling Guo, Mariam Aghajan, Thomas B Bartnikas
Manganese is an essential yet potentially toxic metal. Initially reported in 2012, mutations in SLC30A10 are the first known inherited cause of manganese excess. SLC30A10 is an apical membrane protein that exports manganese from hepatocytes into bile and from enterocytes into the lumen of the gastrointestinal tract. SLC30A10 deficiency results in impaired gastrointestinal manganese excretion, leading to manganese excess, neurologic deficits, liver cirrhosis, polycythemia, and erythropoietin excess. Neurologic and liver disease are attributed to manganese toxicity...
April 23, 2024: JCI Insight