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Adrenoleukodystrophy — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/Adrenoleukodystrophy
License (as archived): CC-BY-SA-4.0
Archived: 2026-11-07T15:30:59.193Z
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Adrenoleukodystrophy — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/Adrenoleukodystrophy (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_dd772d6871f0 (Metraipolis archive dc_dd772d6871f0, sha256 48c2a78a4bba3bff2c9158ce9da4f1c99eb441428db27ca8483d78759f1b8b01)

BibTeX

@misc{dcdd772d6871f0,
  title = {Adrenoleukodystrophy — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/Adrenoleukodystrophy},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_dd772d6871f0; sha256 48c2a78a4bba3bff2c9158ce9da4f1c99eb441428db27ca8483d78759f1b8b01},
  year = {2026}
}

Archived text

Reproduced under CC-BY-SA-4.0. Attribution: Wikipedia (en), https://en.wikipedia.org/wiki/Adrenoleukodystrophy. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes. The long chain fatty acid buildup causes damage to the myelin sheath of the neurons of the brain, resulting in seizures and hyperactivity. Other symptoms include problems in speaking, listening, and understanding verbal instructions. Clinically, ALD presents as a heterogeneous disorder, showing several distinct phenotypes, and no clear pattern of genotype–phenotype correlation. As an X-linked disorder, ALD presents more frequently and severely in males; however, approximately 80% of heterozygote females show some symptoms later in life. Approximately one third of male ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. It is characterized by normal development in early childhood, followed by rapid degeneration to a vegetative state. The other forms of ALD vary in timing of onset and in clinical severity, ranging from adrenal insufficiency alone to progressive paraparesis in early adulthood. ALD is caused by mutations in ABCD1, a gene located on the X chromosome that codes for ALD, a peroxisomal membrane transporter protein. The exact mechanism of the pathogenesis of the various forms of ALD is not known. Biochemically, individuals with ALD show very high levels of unbranched, saturated, very long chain fatty acids, particularly cerotic acid (26:0). The level of cerotic acid in plasma does not correlate with clinical presentation. Treatment options for ALD are limited. For the childhood cerebral form, stem cell transplant and gene therapy are options if the disease is detected early in the clinical course. Adrenal insufficiency in ALD patients can be successfully treated. ALD is the most common peroxisomal inborn error of metabolism, with a minimum estimated incidence of 1:42,000 for hemizygotes and 1:16,800 for hemizygotes and heterozygotes, though the incidence is likely to increase with improved newborn screening. It does not have a significantly higher incidence in any specific ethnic group.

Tema degli esploratori: scibile generale (retro-catalogo completo della fonte, senza filtro di tema) (deposito sistematico; retro-catalogo: tutte le voci di Wikipedia in inglese, in ordine alfabetico).
Fonte: Wikipedia in inglese, voce «Adrenoleukodystrophy» — https://en.wikipedia.org/wiki/Adrenoleukodystrophy
Wikidata Q366964: «malattia genetica rara dei perossisomi, organelli intracellulari contenenti vari enzimi utili per la β-ossidazione» (dati Wikidata in CC0 1.0) — https://www.wikidata.org/wiki/Q366964
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/Adrenoleukodystrophy?action=history).
Licenza: Creative Commons Attribuzione-Condividi allo stesso modo 4.0 (CC BY-SA 4.0) — https://creativecommons.org/licenses/by-sa/4.0/. Il riuso richiede attribuzione e stessa licenza.
Estratto dell'introduzione non modificato nel contenuto; revisione 1359196391, consultata il 2026-11-07T15:25:28.378Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: eb4e4d839ef05e3260eab41466dccf32fd1943bff74314cee2f8b5e5e669f4ee