Publication Date

Spring 5-3-2024


School of Health Sciences


Biology: Biomedical Sciences


msud, genetic disorders, maple syrup urine disease, metabolic disease, bcaa


Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Medical Genetics | Nutritional and Metabolic Diseases


Maple syrup urine disease (MSUD) is a rare metabolic disorder that is caused by mutations in the branched chain alpha keto acid dehydrogenase enzyme complex (BCKDC). There are three main genes, the BCKDHA, BCKDHB, and DBT, that affect the BCKDC, all contributing to the onset of the disease. MSUD causes encephalopathy, neural deficits, maple syrup scented urine, coma, and even death if not treated due to the aggregation of branched-chain amino acids (BCAAs). There is currently no known cure for patients with MSUD, but the condition can be managed to improve quality of life. This review serves to examine MSUD and understand its pathology, mutations, the populations affected, and explore the treatment methods currently offered while also analyzing new and upcoming research in the field.