Maple syrup urine disease

Maple syrup urine disease (MSUD) is a genetic medical disorder. It causes a problem with how the human body deals with amino acids. It is also called branched chain ketoaciduria. Maple syrup urine disease affects about 1 in 185,000 infants worldwide.

The most noticeable symptom of the disorder is an infant with sweet-smelling urine. Infants with this disease seem healthy at birth. If the disease is not treated, the person will suffer severe brain damage and eventually die. MSUD is much more common in children of Amish and Mennonite descent.

From a very early age, the condition can be recognised by poor feeding, vomiting, lack of energy, seizures, and mental health issues. The urine of infants with this disease has a very sweet odor, much like burned caramel or maple syrup. This is what gives the condition its name.

 Other websites 
 Maple Syrup Urine Disease (Overview on NLM)
 MSUD Family Support Group

Category:Genetic disorders