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.

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