Maple syrup urine disease is often classified by the pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which appears soon after birth or within 48 ...

The new infusion for maple syrup urine disease is for patients who cannot have an oral or enteral branched-chain amino acids-free formulation.

Journal reference: Wang, J., et al. (2025). BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.

The American Academy of Pediatrics recommends all newborns undergo screening for metabolic conditions like phenylketonuria (PKU), maple syrup urine disease (MSUD), and mitochondrial trifunctional ...