The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.

ABSTRACT:

Background

Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system. This systematic literature review aimed to explore the effect of MLD on the lives of patients.

Methods

The Ovid platform was used to search Embase, MEDLINE, and the Cochrane Library for articles related to the natural history, clinical outcomes, and burden of illness of MLD; congress and hand searches were performed using 'metachromatic leukodystrophy' as a keyword. Of the 531 publications identified, 120 were included for data extraction following screening. A subset of findings from studies relating to MLD natural history and burden of illness (n = 108) are presen

SUBMITTER: Chang SC 

PROVIDER: S-EPMC10946116 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature