MSUD
Pronunciation: EM-sud
Also written as: MSUD — Maple Syrup Urine Disease
Maple syrup urine disease, a rare inherited disorder affecting amino acid metabolism.
Full Definition
Maple syrup urine disease is an autosomal recessive disorder caused by deficiency in branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of branched-chain amino acids. The condition gets its name from the characteristic sweet odor of affected infants' urine. Early detection through newborn screening is critical as untreated MSUD can cause severe neurological damage, intellectual disability, and death. Treatment involves strict dietary protein restriction and specialized medical foods.
Usage
Usage note: Always capitalize as acronym; spell out on first use in formal documents.
In Context
- "The infant's elevated leucine levels indicated possible MSUD requiring immediate dietary intervention." — Case report
- "MSUD screening relies on detection of elevated branched-chain amino acids in dried blood spots." — Laboratory manual