ArticleCommunications medicine2024
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy.
Article in Communications medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed.
- Longer lipids mark aging and constrain lifespan.Nature aging · 2026Article
- Biomarker changes in cerebral adrenoleukodystrophy after gene therapy or allogeneic hematopoietic cell transplant.Molecular therapy. Advances · 2026Article
- Longitudinal Clinical Progression in X-Linked Adrenoleukodystrophy: The AMNL Scoring System.Annals of the Child Neurology Society · 2026Article
- Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort.Journal of clinical laboratory analysis · 2026Article
- Nervonic acid supplementation mitigates disease severity biomarkers in adrenoleukodystrophy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Profiling of fatty acids and lipids in animal and human tissues yields new leads for disease progression biomarkers of X-linked adrenoleukodystrophy.The Journal of biological chemistry · 2026Article
- In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder.Nature biomedical engineering · 2026Article
- Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy.Annals of clinical and translational neurology · 2026Review
- The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2026Article
- Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2026Article
- The role of arachidonic acid metabolites in the subtype classification and pathogenesis of primary aldosteronism.iScience · 2026Article
- Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.Journal of child neurology · 2026Review
- Evolution of the lipidome uncovers early changes in adrenoleukodystrophy human cortical and spinal organoids.iScience · 2026Article
- Peroxisomal integrity in demyelination-associated microglia enables cellular debris clearance and myelin renewal in mice.The Journal of clinical investigation · 2026Article
- Lipid signature in X-ALD: a comparison between phenotypes.Frontiers in molecular biosciences · 2026Article
- An AAV-Based Therapy Approach for Neurological Phenotypes of X-Linked Adrenoleukodystrophy.International journal of molecular sciences · 2025Review
- Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction.Nature communications · 2025Article
- Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue.EMBO molecular medicine · 2025Article
- Dietary Approaches in the Management of Adrenoleukodystrophy: Evidence Summary for Nutritional Tips.Nutrients · 2025Review
- Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.International journal of neonatal screening · 2025Article
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Authors and funding
16 authors.
Funding
Abstract
backgroundX-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.
methodsThe 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 lipidomic analysis of plasma samples from 24 healthy controls, 92 male and 65 female ALD patients.
resultsHere we show that VLCFA are incorporated into different lipid classes, including lysophosphatidylcholines, phosphatidylcholines, triglycerides, and sphingomyelins. Our results show a strong association between higher levels of VLCFA-containing lipids and the presence of leukodystrophy, adrenal insufficiency, and severe spinal cord disease in male ALD patients. In female ALD patients, VLCFA-lipid levels correlate with X-inactivation patterns in blood mononuclear cells, and higher levels are associated with more severe disease manifestations. Finally, hematopoietic stem cell transplantation significantly reduces, but does not normalize, plasma C26:0-lysophosphatidylcholine levels in male ALD patients. Our findings are supported by the concordance of C26:0-lysophosphatidylcholine and total VLCFA analysis with the lipidomics results.
conclusionsThis study reveals the profound impact of ALD on the lipidome and provides potential biomarkers for predicting clinical outcomes in ALD patients.
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Registered trials
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