Leucine (pictured above), Isoleucine, and valine are the branched-chain amino acids that build up in MSUD.
Specialty
Medical genetics
Maple syrup urine disease (MSUD) is an autosomal recessive[1] metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia.[2] The condition gets its name from the distinctive sweet odor of affected infants' urine and earwax, particularly prior to diagnosis and during times of acute illness.[3] It was described by John Menkes in the 1950s.[4]
^Podebrad F, Heil M, Reichert S, Mosandl A, Sewell AC, Böhles H (April 1999). "4,5-dimethyl-3-hydroxy-25H-furanone (sotolone)--the odour of maple syrup urine disease". Journal of Inherited Metabolic Disease. 22 (2): 107–114. doi:10.1023/A:1005433516026. PMID 10234605. S2CID 6426166.
^Ogier de Baulny H, Saudubray JM (2002). "Branched-chain organic acidurias". Semin Neonatol. 7 (1): 65–74. doi:10.1053/siny.2001.0087. PMID 12069539.
^"Maple syrup urine disease". Genetics Home Reference. July 2017.
^"Citation Classics" (PDF). Science Citation Index (20). May 14, 1979. Archived (PDF) from the original on January 2, 2013.
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