This article presents international consensus recommendations for the diagnosis and management of patients with adrenoleukodystrophy (ALD), a genetic disorder affecting peroxisomal metabolism and leading to progressive neurological and adrenal involvement. Using a structured expert consensus approach, the authors provide guidance on screening (including newborn screening), genetic testing, and the monitoring of both cerebral disease and adrenal insufficiency. The recommendations also address indications and timing for interventions such as hematopoietic stem cell transplantation, emphasizing the importance of early detection and regular MRI surveillance to optimize outcomes.
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
· 7 April 2026
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC.
Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29. PMID: 36175155.