Maple Syrup Urine Disease, Type 2 (DBT)

Maple syrup urine disease (MSUD), type 2 is an autosomal recessive disease caused by pathogenic variants in the gene DBT. Symptoms associated with this disorder begin in early infancy and are characterized by urine that has a maple syrup odor, poor feeding, vomiting, lethargy, seizures, hypertonicity, mental retardation, and developmental delay. If left untreated, this disease can lead to severe seizures, coma, central respiratory failure, and death. Life expectancy is normal for patients properly managed with a lifelong diet.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):