Wang I.-J.Chu S.-Y.Wang C.-Y.Wang P.-J.WUH-LIANG HWU2020-12-162020-12-1620031608-8115https://www.scopus.com/inward/record.uri?eid=2-s2.0-0344445457&partnerID=40&md5=5ee2117695c8bc71c4b5593faf7aee4ehttps://scholars.lib.ntu.edu.tw/handle/123456789/526050Maple syrup urine disease (MSUD) is a rare inborn error of the branched chain amino acid metabolism, which can be classified as classical, intermediate, intermittent, and thiamine responsive types. We report a 16-day-old boy who suffered from difficult feeding, persistent metabolic acidosis, and tricycling movement of the lower legs. Status epilepticus was the initial impression, but classical type MSUD was later diagnosed. Under the diagnosis, dietary therapy effectively prevented further neurological deterioration. However, amino acid deficiency manifested as acrodermatitis enteropathica-like skin rash occurred once. Early parenteral glucose supplementation and periodic plasma amino acid monitoring are very important in the management of metabolic diseases, including MSUD.Acrodermatitis enteropathica; Maple syrup urine disease; Status epilepticus[SDGs]SDG3acrodermatitis enteropathica; amino acid metabolism; article; biological monitoring; controlled study; deterioration; diet supplementation; diet therapy; disease course; epileptic state; human; impression cytology; inborn error of metabolism; lower leg; maple syrup urine disease; newborn; nuclear magnetic resonance imaging; nuclear magnetic resonance spectroscopy; rash; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Status Epilepticusjournal article146742322-s2.0-0344445457