Rare Disease 23 - Maple Syrup Urine Syndrome

From Wikipedia:

Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine.


A more non-scientific description from The MSUD Family Support Group:

Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder. If untreated, MSUD causes mental retardation, physical disabilities and death. First described as a disease in 1954, it is a rare disorder, believed to be in all ethnic groups worldwide. The national incidence is 1 in 225,000 births.

MSUD derives its name from the sweet, burnt sugar, or maple syrup smell of the urine. The disorder affects the way the body metabolizes (processes) certain components of protein, the three branched-chain amino acids—leucine, isoleucine, and valine. These amino acids accumulate in the blood and become toxic to the brain.


The same website also has a list of recipe categories for low-protein foods.



Here is a very short video with the basics about MSUD:




The "cheat sheet" about MSUD from the National Library of Medicine is here.


MSUD is just one of 7,000 rare diseases, most without cures and very few treatments.  Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.

Rare Disease Day is February 28, 2013.