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Acyl-CoA oxidase deficiency — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/Acyl-CoA_oxidase_deficiency
License (as archived): CC-BY-SA-4.0
Archived: 2026-11-07T12:15:09.762Z
SHA-256 of the archived text: a29c216e9efe00229f4c5ff1a7fed1fe9a8f5cc6cc53445ff454561401b70140
Stable URL of this page: https://metraipolis.com/documento/dc_586a585deb77

How to cite

Acyl-CoA oxidase deficiency — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/Acyl-CoA_oxidase_deficiency (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_586a585deb77 (Metraipolis archive dc_586a585deb77, sha256 a29c216e9efe00229f4c5ff1a7fed1fe9a8f5cc6cc53445ff454561401b70140)

BibTeX

@misc{dc586a585deb77,
  title = {Acyl-CoA oxidase deficiency — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/Acyl-CoA_oxidase_deficiency},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_586a585deb77; sha256 a29c216e9efe00229f4c5ff1a7fed1fe9a8f5cc6cc53445ff454561401b70140},
  year = {2026}
}

Archived text

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

Acyl-CoA oxidase deficiency is a rare genetic disorder that leads to significant damage and deterioration of nervous system functions (neurodegeneration). It is caused by pathogenic variants in ACOX1, which codes for the production of an enzyme called peroxisomal straight-chain acyl-CoA oxidase (ACOX1). It is responsible for the breakdown of very long chain fatty acids (VLCFAs). Defective function of the ACOX1 enzyme prevents proper breakdown of VLCFAs, leading to their accumulation and interference with the nervous system. Acyl-CoA oxidase deficiency's symptoms begin at birth, and most affected newborns do not survive past early childhood. Affected individuals can be born with hypotonia, seizures, and dysmorphic features, such as widely spaced eyes, a low nasal bridge and low set ears. Polydactyly and hepatomegaly have also been described. Most babies will learn to walk and begin speaking, before experiencing a rapid decline in motor function between the ages of 1 and 3. As the person ages, and the conditions worsens, they begin to experience exaggerated reflexes (hyperreflexia), more severe and frequent seizures, and gradual loss of vision and hearing. There is no cure, however, a range of symptom-based treatments are used to provide supportive care.

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 «Acyl-CoA oxidase deficiency» — https://en.wikipedia.org/wiki/Acyl-CoA_oxidase_deficiency
Wikidata Q18553481: «peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy» (dati Wikidata in CC0 1.0) — https://www.wikidata.org/wiki/Q18553481
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/Acyl-CoA_oxidase_deficiency?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 1300688686, consultata il 2026-11-07T12:10:12.062Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: d798abb080d5f88ba4faab367ebe89db2af700c4840d94bbc8a131dfd1705c9c