Intermediate
Technical
IVT
MSUD
Pronunciation: EM-sud
Also written as: MSUD — maple syrup urine disease
Maple syrup urine disease, a rare metabolic disorder causing inability to break down branched-chain amino acids.
Full Definition
Maple syrup urine disease (MSUD) is an autosomal recessive disorder affecting the breakdown of leucine, isoleucine, and valine. Named for the characteristic sweet odor of affected infants' urine, MSUD can cause severe neurological damage and death if untreated. Early detection through newborn screening allows for immediate implementation of a specialized low-protein diet and medical management to prevent brain damage.
Usage
Usage note: Always spell out on first use in patient-facing documents.
In Context
- "The infant's elevated leucine levels confirmed a diagnosis of MSUD requiring immediate dietary intervention." — Pediatric consultation
- "MSUD screening protocols require leucine measurement within 72 hours of collection." — Laboratory manual
Also known as
maple syrup urine disease
branched-chain ketoaciduria
Don't confuse with
other aminoacidopathies
organic acidurias