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Full-Text Articles in Medical Sciences
Exploring The Genetics Of Myotonic Dystrophy Type 1 And Its Ethical Implications, Caleb Smith
Exploring The Genetics Of Myotonic Dystrophy Type 1 And Its Ethical Implications, Caleb Smith
NEXUS: The Liberty Journal of Interdisciplinary Studies
No abstract provided.
The Molecular Basis Of Maple Syrup Urine Disease, Chloe Jensen
The Molecular Basis Of Maple Syrup Urine Disease, Chloe Jensen
Senior Honors Theses
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 …