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Metachromatic leukodystrophy (MLD) is a rare and progressive disease that is fatal if left untreated1,2

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Metachromatic leukodystrophy (MLD) is a rare and progressive disease that is fatal if left untreated1,2

Diagnosing MLD early is the first line of defense against the impacts of MLD2,3
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A closer look at MLD

MLD is an autosomal recessive disease that leads to progressive loss of motor and cognitive function. MLD is fatal if left untreated.2

Learn more about MLD
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Recognize the signs of MLD

MLD symptoms differ based on subtype. Understand the associated symptoms for each age range so you can identify MLD.2
Utilize the MLD symptom tool
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If you see signs, order a diagnostic test

MLD progresses rapidly and early diagnosis is crucial. Easily accessible diagnostic tests can rule out MLD and should be ordered immediately if any symptoms are displayed.1
How to test for MLD

References 1. Biffi A, Cesani M, Fumagalli F, et al. Metachromatic leukodystrophy-mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet. 2008:74;349-357. 2. Wang RY, Bodamer OA, Watson MS, et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Gen Med. 2011:13;457-484. 3. Fumagalli F, Calbi V, Natali Sora MG, et al. Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access. Lancet. 2022;399:372-383.