Maple syrup disease: diagnosis and contemporary treatment strategies

Abstract Maple syrup disease (MSUD) is a rare, hereditary metabolic disease resulting from disorders in the metabolism of branched chain amino acids: leucine, isoleucine and valine. In this article, we discuss the diagnosis of MSUD, emphasizing the importance of newborn screening tests, which enable early diagnosis and reduce the risk of neurological complications. We present current treatment methods, such as the use of a low-protein diet and the problems associated with it, as well as alternative solutions, such as liver transplantation. Future research directions focus on gene therapy, improvements in transplantation methods, and the development of mobile applications that significantly support caregivers in disease management by assisting in the monitoring of diet and metabolic parameters.