State Expands its Newborn Screening Program

August 31, 2023

The Minnesota Department of Health (MDH) is adding three new conditions to its Newborn Screening Program, including guanidinoacetate methyltransferase (GAMT) deficiency, Mucopolysaccharidosis Type II (MPS II) and Krabbe disease. 

The MDH Public Health Laboratory routinely screens all babies born in Minnesota for more than 60 conditions. The MMA is a long-time supporter of this program. 

“Minnesota has one of the most comprehensive newborn screening programs in the country, and regularly considers additions to the program,” said Minnesota Commissioner of Health Brooke Cunningham, MD, PhD.  

Although rare, the three new conditions can be serious if not detected and treated early. 

• Guanidinoacetate Methyltransferase Deficiency (GAMT) is a disorder that can lead to neurological problems, such as intellectual disability, seizures, behavior problems and limited speech development. Treatment may include amino acid supplements such as creatine and ornithine as well as dietary guidance from specialists. 

• Mucopolysaccharidosis Type II (MPS II), also known as Hunter Syndrome, occurs almost exclusively in males. It affects many body systems, including the muscles, skin, eyes and nerves. Treatment may include enzyme replacement therapy, physical therapy, dietary changes and surgeries. 

• Krabbe Disease can cause muscle stiffness, blindness and deafness, and it can be fatal if treatment is not administered in time. Treatment involves a stem cell transplant by four to six weeks of age, which is not a cure but greatly improves quality and length of life for most affected children. Newborn screening for Krabbe will allow families to consider a stem cell transplant before their child develops symptoms and it is too late to do treatment. 

The MDH Public Health Laboratory will prepare to begin screening for the three additional conditions by validating testing methods, developing result and follow-up protocols, and working with external partners to establish clinical guidelines. A start date for screening will be determined as this process unfolds. 

Since 1964, when Minnesota started screening for PKU (phenylketonuria), blood samples from all Minnesota newborns have been sent to MDH’s Public Health Laboratory for newborn screening unless their parents opted out. Last year, the lab screened more than 62,600 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 health care provider to discuss the result, inform them about the condition and review the recommended follow-up steps. 

More information can be found on the MDH website: Newborn Screening Program.