Maple syrup urine disease
What is maple syrup urine disease?
Maple syrup urine disease, MSUD, is an inherited metabolic disorder. It is named after the hallmark maple syrup odor of the urine that is caused by an accumulation of amino acids. The other features of MSUD are lethargy, poor feeding, muscle spasms, mental retardation, and developmental delay. MSUD has several sub-types that vary by severity and presentation. Treatment for MSUD is through dietary restriction of branched-chain amino acids and with treatment affected individuals may remain healthy and live through adulthood. Untreated MSUD will lead to seizures, coma and eventually death.