Metachromatic Leukodystrophy (MLD)

Metachromatic Leukodystrophy (MLD) is a rare genetic condition that leads to progressive motor and brain damage. Children with early-onset forms of the condition who do not receive treatment before symptom onset experience motor function loss/paralysis and neurological impairment, followed by death at five to six years of age. MLD was added to the Recommended Uniform Screening Panel (RUSP) in December 2025.

 

Educational Resources

NewSTEPs has compiled educational resources that can be used to support screening efforts in states and regions. For all educational resources, pertinent publications, and archived webinars, please visit the NewSTEPs resource library and filter for MLD.