X-linked adrenoleukodystrophy
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
Europe PMC · from cache · sorted by publication date
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1
Analysis of Interindividual Lesion Progression Variability in Adult Cerebral Adrenoleukodystrophy.
Ponleitner M, Lier J, Bracoud L, Kabak EG, Thompson R, McLaughlin HG, Delmonte A, Cajgfinger T, Schäfer L, Aw… · 2026-08-12
unreviewed -
2
C26:0-lysophosphatidylcholine in X-linked adrenoleukodystrophy.
Jaspers YRJ, Dijkstra IME, Engelen M, Kemp S. · 2026-06-19
unreviewed -
3
From inactivation to intervention: X chromosome silencing in disease pathogenesis and emerging therapeutic strategies.
Fu Y, Tan X, Qin L, Wang C. · 2025-12-05
open access unreviewed -
4
Advances in vehicles for in situ delivery: From classical vectors to biologically inspired structures.
Wang H, Tang X, Pan X, Tang H, Gao J, Li Q. · 2026-03-17
open access unreviewed -
5
Driving treatment for females with X-linked adrenoleukodystrophy.
Zackowski KM, Raymond GV, Fatemi A, Keller JL. · 2026-06-17
unreviewed -
6
The complex lipidome as a driver of tissue-specific pathology in adrenoleukodystrophy.
Kemp S, Engelen M, Jaspers YRJ. · 2026-07-17
unreviewed -
7
Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort.
Blas SM, Pujalte SP, Álvarez AM, Ríos AIÁ, Cabello BM, Moreno CN, Gila ALG, Fuentes ED, Moreno EV, Pecellín C… · 2026-06-17
unreviewed -
8
From farm to lab: gene-edited sheep transforming bone research.
Lunde-Young R, Huggins S, Pryor JH, Westhusin ME, Muneoka K, Murphy WJ, Suva LJ, Long CR, Gaddy D. · 2026-04-11
open access unreviewed -
9
Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children.
Winter E, Nagy A, Li Y, Rapalino O, Becker CL, Locascio J, Jaimes C, Eichler F. · 2026-03-16
unreviewed -
10
Nervonic acid and the long arc of therapeutic hope in X-linked adrenoleukodystrophy.
Eichler F. · 2026-06-27
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.