ArticlePloS one2016
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 47 citations in OpenAlex.
- Nervonic acid supplementation mitigates disease severity biomarkers in adrenoleukodystrophy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype.Communications biology · 2026Article
- Gene Therapy of Adrenomyeloneuropathy: Challenges, Target Cells, and Prospectives.Biomedicines · 2025Review
- Review
- Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell-derived astrocytes from adrenoleukodystrophy patients.Journal of inherited metabolic disease · 2025Article
- AnMolecular therapy. Methods & clinical development · 2024Article
- Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.Orphanet journal of rare diseases · 2023Article
- Mouse Models to Study Peroxisomal Functions and Disorders: Overview, Caveats, and Recommendations.Methods in molecular biology (Clifton, N.J.) · 2023Article
- In vivo gene editing via homology-independent targeted integration for adrenoleukodystrophy treatment.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.Molecular genetics & genomic medicine · 2022Article
- Evolution of adrenoleukodystrophy model systems.Journal of inherited metabolic disease · 2021Review
- Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.The Journal of clinical investigation · 2021Article
- Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect.Frontiers in cell and developmental biology · 2021Article
- Involvement of Lactate and Pyruvate in the Anti-Inflammatory Effects Exerted by Voluntary Activation of the Sympathetic Nervous System.Metabolites · 2020Article
- X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2020Review
- Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders.Frontiers in cell and developmental biology · 2020Article
- Lipidomics unveils lipid dyshomeostasis and low circulating plasmalogens as biomarkers in a monogenic mitochondrial disorder.JCI insight · 2019Article
- Functional peroxisomes are required for β-cell integrity in mice.Molecular metabolism · 2019Article
- Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.Journal of inherited metabolic disease · 2017Article
- 25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome.Nature communications · 2016Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation. Virtually all males develop progressive myelopathy (AMN). A subset of patients, however, develops a fatal cerebral demyelinating disease (cerebral ALD). Hematopoietic stem cell transplantation is curative for cerebral ALD provided the procedure is performed in an early stage of the disease. Unfortunately, this narrow therapeutic window is often missed. Therefore, an increasing number of newborn screening programs are including ALD. To identify new biomarkers for ALD, we developed an Abcd1 knockout mouse with enhanced VLCFA synthesis either ubiquitous or restricted to oligodendrocytes. Biochemical analysis revealed VLCFA accumulation in different lipid classes and acylcarnitines. Both C26:0-lysoPC and C26:0-carnitine were highly elevated in brain, spinal cord, but also in bloodspots. We extended the analysis to patients and confirmed that C26:0-carnitine is also elevated in bloodspots from ALD patients. We anticipate that validation of C26:0-carnitine for the diagnosis of ALD in newborn bloodspots may lead to a faster inclusion of ALD in newborn screening programs in countries that already screen for other inborn errors of metabolism.
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