Maple Syrup Urine Disease, or branched-chain ketoaciduria, is a rare genetic disease that causes problems with metabolizing branched chain amino acids. It causes a baby's urine to smell like maple syrup or burnt sugar.
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If not treated, Maple Syrup Urine Disease causes severe brain damage and death.

This disorder is inherited if both parents have the recessive gene for it.
Maple Syrup Urine Disease
Symptoms of Maple Syrup Urine Disease

In Maple Syrup Urine Disease, the deficiency in ability to process branched-chain amino acids is present at birth. However, a baby might not immediately show symptoms of the disease. Maple Syrup Urine Disease symptoms include:

Urine that smells sweet, like maple syrup or like burnt sugar
Ear wax that also smells like maple syrup or burnt sugar
Vomiting
Poor muscle tone
Lethargy
Dehydration
Pancreatitis
Poor feeding
Seizures
Hypoglycemia
Ketoacidosis
Decline in neurological function
Coma
Abnormal posture where the neck and spine are strongly arched backwards (in a "bridge" type formation)
Symptoms of Maple Syrup Urine Disease are apparent soon after birth in most cases. However, symptoms could appear later during childhood in some cases.
Treatment for Maple Syrup Urine Disease

This disease is treated with a special diet that minimizes levels of branched chain amino acids (leucine, isoleucine and valine). The person's blood must be frequently tested to monitor the amount of branched chain amino acids in the body.

If the diet is strictly followed, people with Maple Syrup Urine Disease can have good health and a normal lifespan.