Saturday, August 13, 2011

Maple syrup urine disease

Maple syrup urine disease is an inherited disorder in which there is a deficiency of the enzyme(s) responsible for the breakdown of certain amino acids. These particular amino acids and their byproducts consequently accumulate causing toxic damage to the brain. Urine from patients with this disease may contain these amino acids and their byproducts giving it a sweet odor that is reminiscent of maple syrup – maple syrup urine disease (MSUD).
Amino acids are the building blocks of proteins.
Podebrad F et al. 4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease. J Inherit Metab Dis 1999 22(2):107-14. Go to reference
Go to ripe cheese odor 

Branched chain amino acids - valine, leucine and isoleucine

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