Metachromatic leukodystrophy
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
Europe PMC · fetched just now · sorted by publication date
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1
Multiterritory Acute Ischemic Stroke with Bilateral Middle Cerebellar Peduncle T2/FLAIR Hyperintensities in the Setting of a Fatal Systemic Arterial Thrombotic Process: A Case Report.
Brou KM, Traoré S, Ahoury NJ, Aka NA, N'zi KP. · 2026-09-15
open access unreviewed -
2
Reframing the value of reserve antibiotics: how ultra-orphan reimbursement pathways could offer fair and equitable access to new antibiotics.
Quinn J, Amersdorffer J, Boysen M, Duffy-Roger O, Hewitt C, Jain M, McKinney D, Ivezic-Schoenfeld Z, Toumi M,… · 2026-07-17
open access unreviewed -
3
Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.
Niazi SK. · 2026-10-02
open access unreviewed -
4
Proteomic Signatures of Noise-Induced Hearing Loss in the Mouse Cochlea.
Batissoco AC, Alencar-Coutinho D, Ferreira-Scatone AC, Diogo-Cavassana S, Oiticica J, Lezirovitz K, Bento RF. · 2026-10-01
open access unreviewed -
5
Small populations, big impact: leveraging rare disease gene therapies to benefit millions.
Cherqui S. · 2026-10-01
open access unreviewed -
6
Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications.
Nkenguye W, Suleman M, Lodhia J. · 2026-09-23
unreviewed -
7
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 -
8
Characterization of hematopoietic stem cell-derived microglia-like cells in nonhuman primates.
Petty NE, Wolf CB, Kanestrom G, Mendoza M, Swing K, Murnane R, Tong A, Starrs M, Fields E, Madhu R, Nelson V,… · 2026-10-01
open access unreviewed -
9
Gallbladder involvement in metachromatic leukodystrophy: a systematic review and comparison of American and European surveillance recommendations.
Lipiński P, Skarżyńska A, Więcek S, Paprocka J. · 2026-09-28
unreviewed -
10
A review of genetic modification for ex vivo cellular therapies.
Dinh A, Zhang N, Stroncek D. · 2026-09-01
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.