What Is Maple Syrup Urine Disease?
Reviewed: Dr. Gromatzky
The name “maple syrup urine disease” may sound benign, but it is a serious medical disorder that needs diagnosis and treatment to reduce the chance of lifelong complications or even death. This metabolic condition is a recessive genetic disorder that affects the body’s amino acids that are structured in branched chains.
Since the disorder is characterized by a distinct smell, it is often diagnosed in early infancy as long as the disease is presenting in a classic way. Prompt diagnosis and treatment can mitigate some of the more severe possible outcomes of the disorder.
