Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.

ABSTRACT:

Purpose

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA), which results in the accumulation of sulfatides. Newborn screening for MLD may be considered in the future as innovative treatments are advancing. We carried out a research study to assess the feasibility of screening MLD using dried blood spots (DBS) from de-identified newborns.

Methods

To minimize the false-positive rate, a two-tier screening algorithm was designed. The primary test was to quantify C16:0-sulfatide in DBS by ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The screening cutoff was established based on the results from 15 MLD newborns to achieve 100% sensitivity. The secondary test was to measure the ARSA

SUBMITTER: Hong X 

PROVIDER: S-EPMC10395749 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature