Maple syrup urine disease

Maple syrup urine disease
Other namesBranched-chain ketoaciduria
Leucine (pictured above), Isoleucine (pictured below), and valine are the branched-chain amino acids that build up in MSUD.[1][2]
Isoleucine
SpecialtyMedical genetics, Dietetics

Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder that affects the body's ability to metabolize amino acids due to a deficiency in the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex.[3] It particularly affects the metabolism of amino acids—leucine, isoleucine, and valine.[4] With MSUD, the body is not able to properly break down these amino acids, therefore leading to the amino acids to build up in urine and become toxic. The condition gets its name from the distinctive sweet odor of affected infants' urine and earwax due to the buildup of these amino acids.[5]

  1. ^ Singh E, Chi YI, Kopesky J, Zimmerman M, Urrutia R, Basel D, et al. (May 2024). "Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype". JIMD Reports. 65 (3): 144–155. doi:10.1002/jmd2.12419. ISSN 2192-8312. PMC 11078707. PMID 38736638.
  2. ^ Amaral AU, Wajner M (July 2022). "Pathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids". Neurochemistry International. 157: 105360. doi:10.1016/j.neuint.2022.105360. PMID 35577033.
  3. ^ Blackburn PR, Gass JM, Vairo FP, Farnham KM, Atwal HK, Macklin S, et al. (2020). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Mirzaa GM, Amemiya A (eds.). "Maple Syrup Urine Disease". GeneReviews [Internet]. University of Washington. PMID 20301495. NBK1319.
  4. ^ Lavin LR, Higby N, Abramo T (September 2015). "Newborn Screening: What Does the Emergency Physician Need to Know?". Pediatric Emergency Care. 31 (9): 661–667. doi:10.1097/PEC.0000000000000549. PMID 26335232.
  5. ^ "Maple syrup urine disease". Genetics Home Reference. U.S. National Library of Medicine. July 2017.