Accès ouvert déclaré 2025 article

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Eleonora Antonello, Filippo Arrigoni, Marina Antonella Balestriero, Barbara Borsani, Laura Cappelletti, Elisa Cattaneo, Matilde Ferrario, Giulia Fiore, Maria Rosaria Iascone, Giana Izzo, Simona Lucchi, Cecilia Parazzini, Michela Perrone Donnorso, Luigina Spaccini, Ylenia Vaia, Pierangelo Veggiotti, Elvira Verduci, Gianvincenzo Zuccotti, Davide Tonduti

5Citations signalées, ce qui n’est pas une note de qualité

3Institutions déclarées

1Pays d’affiliation déclarés

Rattachement africain : it. Niveau de preuve : code pays fourni par la source.

Le résumé fourni par la source

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease. Since 2021, a pilot newborn screening (NBS) program for X-ALD has been launched in Lombardy, Italy. From September 2021 to June 2025, 138,116 newborns (≥37 weeks’ gestational age) were screened for elevated C26:0-lysophosphatidylcholine (C26:0-LPC) levels using a two-tier algorithm. Genetic testing was performed in non-negative cases. Males found to be ABCD1 variant carriers were enrolled in multidisciplinary follow-up, including neurological, endocrinological, and nutritional assessments. Eleven individuals (six males, five females) carried pathogenic or likely pathogenic ABCD1 variants. Three males were diagnosed with adrenal insufficiency and started hydrocortisone therapy between 1 and 2 years of age. Growth parameters were within normal range overall, but two children showed signs of stunting associated with poor dietary compliance. Additionally, three patients were diagnosed with Zellweger spectrum disorders (ZSDs). No patients affected with Aicardi-Goutières Syndrome were identified. Newborn screening for X-ALD in Italy is feasible and enables early detection and intervention. Biochemical markers and genetic analysis are reliable tools for identifying affected males and female carriers. Multidisciplinary management is essential to address medical and psychosocial challenges during follow-up.

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Le contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study
Date Crossref: 24/09/2025
Éditeur: MDPI AG
Type: journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Où se fait cette recherche

Ospedale dei Bambini Vittore Buzzi pays non établi dans la notice
Établissement de santé
University of Milan Department of Biomedical and Clinical Sciences pays non établi dans la notice
Université ou école supérieure
Ospedale Papa Giovanni XXIII pays non établi dans la notice
Établissement de santé
Vittore Buzzi Children’s Hospital Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA) pays non établi dans la notice
Établissement de santé
Medical Genetics Laboratory pays non établi dans la notice
Structure de recherche

Ospedale dei Bambini Vittore Buzzi, Department of Biomedical and Clinical Sciences — University of Milan et Ospedale Papa Giovanni XXIII, avec 2 autres affiliations.

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Les sujets associés

Peroxisome Proliferator-Activated ReceptorsAdipose Tissue and MetabolismAdenosine and Purinergic Signaling

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