Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy.

ABSTRACT:

Background

X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1 resulting very long-chain fatty acids (VLCFA) accumulation in plasma and tissues. Males can present with various clinical manifestations, including adrenal insufficiency, spinal cord disease, and leukodystrophy. Female patients typically develop spinal cord disease and peripheral neuropathy. Predicting the clinical outcome of an individual patient remains impossible due to the lack of genotype-phenotype correlation and predictive biomarkers.

Methods

The availability of a large prospective cohort of well-characterized patients and associated biobank samples allowed us to investigate the relationship between lipidome and disease severity in ALD. We performed a lip

SUBMITTER: Jaspers YRJ 

PROVIDER: S-EPMC11387402 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature