Back داء البول القيقبي Arabic Bolest s mokraćom mirisa javorovog sirupa BS Ahornsirupkrankheit German Νόσος με οσμή ούρων σαν σιρόπι σφενδάμου Greek Enfermedad del jarabe de arce Spanish Vahtrasiirupi tõbi Estonian Astigar-jarabe gisako gernuaren gaixotasun Basque بیماری ادرار شربت افرا Persian Maladie du sirop d'érable French מחלת סירופ מייפל HE
| Maple syrup urine disease | |
|---|---|
| Other names | Branched-chain ketoaciduria |
 | |
| 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.