maple syrup urine disease

Last reviewed 01/2018

The decarboxylation of leucine, isoleucine and valine is achieved by a complex system using thiamine pyrophosphate as a coenzyme. A deficiency of this enzyme system results in maple syrup urine disease. This condition is so named because of the the sweet odour of maple syrup found in body fluids, especially in urine.

There are different forms of this disease:

• classic maple syrup urine disease
• intermittent maple syrup urine disease
• mild maple syrup urine disease