Minnesota newborns to be screened for Metachromatic leukodystrophy (MLD)

Genetic condition treatment offers family new hope

A miracle treatment brought to the U.S. by Minnesota doctors is giving new hope to those diagnosed with a rare genetic condition after receiving FDA approval.

MINNESOTA (FOX 9) - Babies born in Minnesota will start to be routinely screened for metachromatic leukodystrophy (MLD), the state's health department announced.

Officials say MLD will likely be added to the list of conditions Minnesota newborns are routinely screened for in 2026, based on the Newborn Screening Advisory Committee's recommendation.

READ MORE: MN documentary chronicles groundbreaking treatment for rare genetic disease

What is metachromatic leukodystrophy? 

Big picture view:

MLD is a kind of lysosomal disease that is caused by an enzyme deficiency leading to a buildup of fats known as sulfatides.

Health officials say the buildup causes brain and nervous system damage, which can lead to those diagnosed with MLD not reaching developmental milestones, experiencing regression of skills, seizures and sometimes death.   

There is no cure, but early intervention can slow progression of the disease and help manage symptoms. 

The Minnesota Department of Health said gene therapy "offers a promising approach" to treatment. Such a case was the subject of the documentary "Sequencing Hope", which followed an Alabama family's journey to M Health Fairview Masonic Children's Hospital in Minnesota for their daughter's treatment.

MLD screening in Minnesota 

Local perspective:

The Minnesota Department of Health (MDH) said the start date for MLD screening in Minnesota will likely be in 2026, with an exact date being determined and shared when the process unfolds. 

State officials add that Minnesota "has one of the most comprehensive newborn screening programs in the country" and point to screening for phenylketonuria (PKU) screening that started in 1964. Since then, all babies born in the state have had a blood sample sent to the Minnesota Department of Health for newborn screening unless parents opted out.

Minnesota has since expanded its newborn screening panel to detect more than 60 conditions, allowing affected children to get the care they need as quickly as possible, according to the MDH.

More information on the state's newborn screening program can be found here.