Minnesota Starts Screening Newborns for Two Additional Disorders

March 6, 2025

The Newborn Screening Program at the Minnesota Department of Health (MDH) has begun screening newborns for Duchenne muscular dystrophy (DMD) and guanidinoacetate methyltransferase (GAMT) deficiency. The MMA is a long-time supporter of the newborn screening program.  

Early identification and treatment of these disorders is key to slowing the progression of symptoms, as well as extending and improving the quality of children’s lives. 

DMD is a disorder that causes muscle breakdown. It affects legs and arms first, eventually leading to loss of mobility and weakness of internal muscles needed for breathing. If not identified in newborns, symptoms of DMD can go unrecognized for years. DMD often goes undiagnosed until children are 5 years old, at which point their muscles may already be severely damaged.  

Based on the birth rate in Minnesota, as many as nine newborns are expected to need DMD treatment each year. Screening for DMD among newborns allows families and medical specialists to tailor care, such as physical therapy, based on approved treatments available for children at certain ages. Treatments do not cure DMD, but symptoms and muscle breakdown are less severe.   

GAMT deficiency is a lifelong metabolic disorder causing a toxic buildup that, if left untreated, results in learning and behavioral challenges, as well as serious brain and muscle problems. GAMT deficiency symptoms include late sitting, walking, speaking, and growth. These symptoms typically begin before children reach their first birthday, and as late as age 3. Based on Minnesota’s birth rate, and the rareness of the disorder, MDH expects to identify GAMT deficiency in no more than one child a year. 

Since 1964, when Minnesota started screening for PKU (phenylketonuria), blood samples from all Minnesota newborns have been sent to MDH’s Public Health Lab for screening, unless their parents opt out. As technology and treatments have improved in recent decades, Minnesota has expanded its newborn screening panel to help detect more disorders. In collaboration with hospitals, labs, midwives and medical professionals across Minnesota, newborns are screened soon after birth for more than 60 serious conditions.  

MDH continues to be a national leader in newborn screening. In 2023, the MDH lab screened more than 60,400 newborns from across the state, and recommended early intervention and treatment for conditions detected in about 400 of them. When a condition is detected, MDH contacts the child’s healthcare provider to discuss the result, educate them about the condition, and review the recommended follow-up.  

To learn more, visit MDH's Newborn Screening Program.