By
- Chris Pugh, cleveland.com
- Advance Local Express Desk
A Wisconsin mother says an unusual maple syrup-like smell coming from her newborn son helped doctors identify Maple Syrup Urine Disease (MSUD), a rare genetic disorder that can become life-threatening if left untreated. Megan Popps said she noticed the sweet scent shortly after bringing home her son, Leo, following his birth earlier this year. The family initially believed the odor came from pancakes and maple syrup served during their hospital stay before learning it could be a warning sign of a serious medical condition, People reported.
Several days after leaving the hospital, Popps received a call informing her that Leo’s newborn screening test showed results that required further review. Doctors asked the family to return for additional testing after identifying concerns involving the infant’s amino acid levels, a possible indicator of a rare inherited metabolic disorder, according to the Centers for Disease Control and Prevention
Follow-up testing confirmed Leo had Maple Syrup Urine Disease, commonly known as MSUD. The rare disorder prevents the body from properly breaking down three amino acids: leucine, isoleucine and valine. When those amino acids accumulate, toxic substances can build up in the bloodstream, creating a medical emergency and increasing the risk of brain damage, coma and death if treatment is delayed, the Cleveland Clinic said
Doctors determined that Leo’s amino acid levels had reached a dangerous point and began emergency treatment, including dialysis to remove toxins from his blood. He spent about three weeks in a neonatal intensive care unit before returning home with a treatment plan designed to help prevent future metabolic crises associated with the disorder
Medical specialists say children diagnosed with MSUD typically require lifelong management, including a highly specialized diet and close monitoring of protein intake. Popps said Leo may eventually be evaluated for a liver transplant, a treatment that can reduce some risks associated with the condition and improve quality of life for some patients
According to the Cleveland Clinic, Maple Syrup Urine Disease affects about one in every 185,000 newborns. The condition received its unusual name because excess amino acids can produce a distinctive sweet smell often compared to maple syrup in a baby’s urine, sweat or earwax. Health experts say newborn screening programs are critical for detecting the disorder before symptoms become severe
Looking back, Popps believes the unusual smell helped alert her family that something wasn’t right before Leo’s condition became life-threatening. She hopes sharing her son’s story increases awareness about newborn screening, rare genetic disorders and the early warning signs parents should never ignore
This article was produced with assistance from AI tools and reviewed by Cleveland.com staff
