Publication Published: October 20, 2025

Newborn screening for Metachromatic Leukodystrophy

A systematic review

There is insufficient evidence to evaluate the accuracy of a screening test for metachromatic leukodystrophy (MLD) in newborns. Likewise, there is insufficient evidence to determine the efficacy of gene therapy using autologous stem cells to treat MLD.

Newborn baby
Foto: Colourbox

Based on the systematic search conducted in December 2024, we found:

  • A screening test for MLD appears able to detect most MLD cases within a newborn population. However, more studies are required to evaluate its accuracy.
  • There is insufficient evidence to evaluate the effectiveness of gene therapy using autologous stem cells on motor skills, cognitive or social function in MLD patients, as only one relevant study was included.
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