About Maple Syrup Urine Disease
Maple syrup urine disease (MSUD) is an inherited metabolic disorder caused by deficiency of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) enzyme complex, which is required to break down the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these amino acids and their toxic ketoacid metabolites causes acute metabolic crises, encephalopathy, and if untreated, death or severe neurological damage. The disease is named for the characteristic maple syrup odor of urine in affected infants.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Maple Syrup Urine Disease trials.
Thiamine-responsive MSUD is a distinct subtype — thiamine responsiveness testing may be required for certain trial arms
Liver transplantation corrects BCKAD deficiency — transplanted patients are typically excluded from enzyme-replacement trials
Leucine levels and branched-chain amino acid ratios are the primary biomarkers for eligibility and monitoring
Dietary management history including formula compliance is often reviewed during screening
Patient Resources
Find recruiting Maple Syrup Urine Disease trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Maple Syrup Urine Disease. Updated daily.