{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T00:58:42Z","timestamp":1785373122835,"version":"3.55.0"},"reference-count":34,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:00:00Z","timestamp":1781654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:00:00Z","timestamp":1781654400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100007319","name":"Albert Einstein College of Medicine, Yeshiva University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007319","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      X\u2010linked adrenoleukodystrophy (X\u2010ALD) is a peroxisomal disorder caused by pathogenic variants in the\n                      <jats:italic>ABCD1<\/jats:italic>\n                      gene, leading to accumulation of very long\u2010chain fatty acids (VLCFAs). Plasma VLCFA measurement is central to diagnosis, but its value for prognostic stratification remains uncertain. This study explored the association between biochemical profiles,\n                      <jats:italic>ABCD1<\/jats:italic>\n                      variants, and clinical phenotypes, and assessed the clinical utility of plasma VLCFA levels.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a retrospective study of 31 genetically confirmed X\u2010ALD patients from Western Andalusia evaluated between 2005 and 2025. Clinical data, lipid profiles, and VLCFA parameters were analyzed. Patients were stratified by sex, clinical phenotype, genotype, and lipid status. Associations were assessed using Spearman correlation and non\u2010parametric tests, and ROC curves were used to evaluate discrimination for cerebral ALD (CALD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Symptomatic patients showed higher C26:0 levels and C26:0\/C22:0 ratios than asymptomatic individuals, with the highest values in patients with cerebral involvement. VLCFA levels differed across clinically defined groups, although substantial overlap was observed. Truncating ABCD1 variants were associated with higher C26:0 levels and C26:0\/C22:0 ratios, but not with cerebral involvement. ROC analysis showed moderate discrimination for CALD (AUC\u2009=\u20090.84). No significant longitudinal changes in VLCFA levels were observed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Plasma VLCFA profiling remains essential for X\u2010ALD diagnosis and shows moderate group\u2010level associations with clinical phenotypes, particularly in cerebral involvement. However, its utility for individual prognostic stratification is limited, supporting the need for complementary biomarkers such as C26:0\u2010LPC.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.70269","type":"journal-article","created":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T05:20:27Z","timestamp":1781760027000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Plasma Very\u2010Long\u2010Chain Fatty Acids in X\u2010Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-4701-170X","authenticated-orcid":false,"given":"Sergio Molina","family":"Blas","sequence":"first","affiliation":[{"name":"Department of Clinical Biochemistry Hospital Universitario Pr\u00edncipe de Asturias  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio P\u00e9rez","family":"Pujalte","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disorders Unit, Department of Clinical Biochemistry Hospital Universitario Virgen del Roc\u00edo  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Moreno","family":"\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry Cl\u00ednica Universidad de Navarra  Pamplona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2394-0890","authenticated-orcid":false,"given":"Ana Isabel \u00c1lvarez","family":"R\u00edos","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disorders Unit, Department of Clinical Biochemistry Hospital Universitario Virgen del Roc\u00edo  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-8804","authenticated-orcid":false,"given":"Beatriz Mu\u00f1oz","family":"Cabello","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Universitario Virgen del Roc\u00edo  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4287-9028","authenticated-orcid":false,"given":"Constanza Navarro","family":"Moreno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Universitario Virgen del Roc\u00edo  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Lucia G\u00f3mez","family":"Gila","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Universitario Virgen del Roc\u00edo  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2060-6742","authenticated-orcid":false,"given":"Elena Dios","family":"Fuentes","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Hospital Universitario Virgen del Roc\u00edo  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1037-8570","authenticated-orcid":false,"given":"Eva Venegas","family":"Moreno","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Hospital Universitario Virgen del Roc\u00edo  Seville Spain"},{"name":"Asociaci\u00f3n Espa\u00f1ola para el Estudio de los Errores Cong\u00e9nitos del Metabolismo (AECOM)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3360-9245","authenticated-orcid":false,"given":"Carmen Delgado","family":"Pecell\u00edn","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disorders Unit, Department of Clinical Biochemistry Hospital Universitario Virgen del Roc\u00edo  Seville Spain"},{"name":"Asociaci\u00f3n Espa\u00f1ola para el Estudio de los Errores Cong\u00e9nitos del Metabolismo (AECOM)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,17]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.68"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0421"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-51"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2013.11.023"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000201374"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13816"},{"key":"e_1_2_13_8_1","unstructured":"Adrenoleukodystrophy \u201cALD Mutation Database. 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