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Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review.

Lucia Laugwitz1, Andrew Shenker2, Erica F Sluys3

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International Journal of Neonatal Screening
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PubMed
Summary

Newborn screening for metachromatic leukodystrophy (MLD) shows promise, with established criteria and effective early interventions like gene therapy and HSCT significantly improving health outcomes for affected infants.

Keywords:
metachromatic leukodystrophynewborn screeningsystematic literature review

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Area of Science:

  • Medical Genetics
  • Public Health
  • Neonatal Medicine

Background:

  • Metachromatic leukodystrophy (MLD) is a rare genetic disorder affecting the nervous system.
  • Early diagnosis and intervention are critical for improving patient outcomes in MLD.

Purpose of the Study:

  • To systematically review the evidence for newborn screening (NBS) of MLD.
  • To evaluate screening performance, diagnostic methods, care pathways, and the impact of early treatment.

Main Methods:

  • Systematic literature review of electronic databases (searched Feb-June 2025).
  • Inclusion of 52 publications on MLD NBS and treatments.
  • Analysis of screening assay performance, diagnostics, and care pathways.

Main Results:

  • MLD meets established criteria for NBS, with reliable screening and diagnostics.
  • Early intervention (gene therapy, HSCT) before symptom onset significantly improves outcomes.
  • Nationwide NBS is active in Norway; pilots are underway in Germany, Austria, Italy, and the US.

Conclusions:

  • The evidence supports the inclusion of MLD in NBS programs.
  • Early identification and intervention of MLD through NBS offer substantial public health benefits.
  • Ongoing research aims to refine prediction of MLD severity and subtype.