Publication Date
Spring 5-3-2024
School
School of Health Sciences
Major
Biology: Biomedical Sciences
Keywords
msud, genetic disorders, maple syrup urine disease, metabolic disease, bcaa
Disciplines
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Medical Genetics | Nutritional and Metabolic Diseases
Recommended Citation
Jensen, Chloe, "The Molecular Basis of Maple Syrup Urine Disease" (2024). Senior Honors Theses. 1422.
https://digitalcommons.liberty.edu/honors/1422
Abstract
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.
Included in
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Medical Genetics Commons, Nutritional and Metabolic Diseases Commons
