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ABCD1 XR unreviewed

X-linked adrenoleukodystrophy

Peroxisomal VLCFA oxidation

Enzyme or protein defect

ALD protein (peroxisomal transporter)

Accumulates or becomes deficient

Very-long-chain fatty acids

Key features

Adrenal insufficiency with progressive demyelination and behavioural change

Management

Steroid replacement; HSCT if early

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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Europe PMC · fetched just now · sorted by publication date

  1. 1
    Letter to the Editor from Erdoğan Özbuğday and Karakurt: "Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy".

    Erdoğan Özbuğday H, Karakurt F. · 2026-09-25

    open access unreviewed
  2. 2
    Expanded Umbilical Cord Blood Transplantation in Cerebral X-Linked Adrenoleukodystrophy: A Case Report.

    Granberg RE, Pfeiffer T, Sansar S, Galindo R, Shenoy S. · 2026-09-28

    open access unreviewed
  3. 3
    Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets.

    Huang L, Cheng P, Liu G, Xiang Y, Hong Z, Le W. · 2026-09-20

    open access unreviewed
  4. 4
    Pediatric Neuroinflammatory and Neuropsychiatric Syndromes Associated with Dupilumab Treatment for Atopic Dermatitis.

    Mathiesen L, Santoro JD, Lee NJ, van Haren KP. · 2026-06-17

    unreviewed
  5. 5
    Genetic Etiologies of Dystonia with Anarthria/Aphonia.

    Ménétrey A, Rayco E, Abarghouei ME, Fox SH, Lang AE, Ibrahim GM, Gorodetsky C, Ganos C. · 2026-09-30

    open access unreviewed
  6. 6
    A Systematic Review of Positron Emission Tomography (PET) in X-Linked Adrenoleukodystrophy: Beyond Structural MRI.

    Furuta Y, Li H, Keller SR, Phillips JA, Tinker RJ, Asano E, Juhász C. · 2026-09-25

    unreviewed
  7. 7
    Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications

    Nkenguye W, Suleman M, Lodhia J. · 2026-09-23

    open access unreviewed
  8. 8
    Correction to: "The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration".

    · 2026-09-24

    unreviewed
  9. 9
    Progress and Prospects of Newborn Screening in China.

    Hao X, Huang X, Yang R, Yang X, Huang X, Zhao Z. · 2026-09-02

    open access unreviewed
  10. 10
    Effects of combined nutritional interventions on the natural history of X-linked adrenoleukodystrophy in female carriers.

    Ferrari D, Spreghini MR, Ubertini G, Bertini ES, Aiello C, Petrarca M, Petrucci A, Rizzo C, Isidori AM, Cappa… · 2026-09-01

    unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.