Treatment for MSUD focuses on managing and preventing the buildup of toxic amino acids and their byproducts:
Dietary Management: A specialized diet low in leucine, isoleucine, and valine is essential. Infants may require a special formula, and older children and adults must follow a strict dietary regimen. Medical Monitoring: Regular blood tests to monitor amino acid levels and adjust dietary intake accordingly. Emergency Care: In case of metabolic crises, aggressive treatment with intravenous fluids, glucose, and possibly dialysis is needed to reduce toxic amino acid levels. Liver Transplant: In some severe cases, a liver transplant may be considered as it can provide a permanent cure by supplying the missing enzyme.
