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ARSA AR unreviewed

Metachromatic leukodystrophy

Sphingolipid Degradation (Lysosomal) Arylsulfatase A

Enzyme or protein defect

Arylsulfatase A

Accumulates or becomes deficient

Cerebroside sulfate

Key features

Central and peripheral demyelination, ataxia, dementia

Management

HSCT / gene therapy in early disease

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 · from cache · sorted by publication date

  1. 1
    Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variants.

    Cooney AL, Lamer S, Yang P, Wegner DJ, White FV, Cole FS, Wohlford-Lenane C, Hennessey E, Bawa P, Kotton DN, … · 2026-08-01

    unreviewed
  2. 2
    Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.

    Yoldas Celik M, Koc Ucar H, Köseci B, Burgac E. · 2025-12-03

    unreviewed
  3. 3
    Haematopoetic stem and progenitor cell gene therapy for metachromatic leukodystrophy: Mission possible!

    Yıldız Y, Haliloğlu G. · 2026-07-01

    unreviewed
  4. 4
    Cross-Correction in HSC Gene Therapy for Metachromatic Leukodystrophy.

    Meneghini V, Calbi V, Casalini F, Mangiameli E, Morena F, Piccoli M, Laface I, Rossomanno I, Ornaghi F, Ghiro… · 2026-07-01

    unreviewed
  5. 5
    European expert recommendations for comprehensive pre-treatment, treatment-phase and post-treatment care of patients with metachromatic leukodystrophy treated with autologous haematopoietic stem and progenitor cell gene therapy.

    Laugwitz L, Fumagalli F, Wehner K, Martin P, Kern J, Kaiser N, Kehrer C, Launer T, Juengling P, Steiner-Wilke… · 2026-06-30

    unreviewed
  6. 6
    Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy Added to the Newborn Screening Program.

    Beal JA. · 2026-06-26

    unreviewed
  7. 7
    Evaluation of extraction methods for the determination of urinary sulfatides by LC-MS/MS.

    Janda J, Bürger F, Geiger S, Hasselbach M, Laugwitz L, Hoffmann GF, Okun JG. · 2026-05-04

    unreviewed
  8. 8
    Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy.

    Vasco A, Meta A, Berardo C, Camerlengo D, Fumagalli F, Tonduti D, Fiamingo I, Montrasio C, Postorivo D, Rizze… · 2026-06-30

    unreviewed
  9. 9
    Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes.

    Courtney E, Isenberg SL, Lim T, Pickens CA, Lee R, Cuthbert C, Petritis K. · 2026-06-09

    open access unreviewed
  10. 10
    External controls for rare disease drug development: Lessons for emerging and advanced therapeutic modalities.

    Hughes SH, Beretich LA, Fuller M, Goodspeed K, Penn M, Valentino LA, McCombs C. · 2026-05-19

    open access unreviewed

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