Neurol. praxi. 2026;27(2):109-113 | DOI: 10.36290/neu.2026.007

Metachromatic leukodystrophy diagnostic and therapeutic options

doc. MUDr. Miriam Kolníková, PhD.1, MUDr. Klára Brožová, Ph.D.2
1 Klinika detskej neurológie LF UK a NÚDCH, Bratislava
2 Oddělení dětské neurologie, Thomayerova nemocnice, Praha

Metachromatic leukodystrophy (MLD), caused by arylsulfatase A deficiency, is characterized by three clinical subtypes: late infantile, juvenile (early and late) and adult form. Regression of motor and mental functions with finding of leukodystrophy on brain MRI is the reason for further laboratory examination. The diagnosis of MLD is established by confirmation of arylsulfatase enzyme deficiency, finding of sulfatides in urine and subsequent genetic examination of pathogenic variants of the ARSA gene. Targeted therapy is allogenic hematopoietic stem cell transplantation (HSCT), which is used in patients with pre- and very early symptomatic forms of MLD. Autologous HSCT using gene-modified hematopoietic stem cells (also known as ex vivo gene therapy) is approved for presymptomatic patients with late infantile and juvenile MLD or in the early phase of juvenile MLD in mildly symptomatic patients with preserved walking ability, before onset of cognitive decline.

Keywords: metachromatic leukodystrophy, diagnosis, gene treatment.

Received: January 19, 2026; Revised: February 7, 2026; Accepted: February 7, 2026; Prepublished online: February 7, 2026; Published: April 29, 2026  Show citation

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Kolníková M, Brožová K. Metachromatic leukodystrophy diagnostic and therapeutic options. Neurol. praxi. 2026;27(2):109-113. doi: 10.36290/neu.2026.007.
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