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, as reported by People.
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 in certain patients.
MSUD affects approximately 1 in 185,000 newborns, according to the Cleveland Clinic. Newborn screening programs are critical for detecting the disorder before symptoms become severe, allowing early intervention to prevent serious complications.
The case highlights the importance of parental awareness and routine newborn screening in identifying rare conditions early. While the journey ahead involves careful medical management, Leo’s family is hopeful that with ongoing treatment and monitoring, he can lead a healthy life.