Peroxisomal acyl-CoA oxidase deficiency

Last revised by Frank Gaillard on 14 Mar 2019

Citation, DOI, disclosures and article data

Citation:

Gaillard F, Peroxisomal acyl-CoA oxidase deficiency. Reference article, Radiopaedia.org (Accessed on 24 Apr 2024) https://doi.org/10.53347/rID-66934

DOI:

https://doi.org/10.53347/rID-66934

Permalink:

https://radiopaedia.org/articles/66934

rID:

66934

Article created:

13 Mar 2019, Frank Gaillard ◉ ◈

Disclosures:

At the time the article was created Frank Gaillard had no recorded disclosures.

View Frank Gaillard's current disclosures

Last revised:

14 Mar 2019, Frank Gaillard ◉ ◈

Disclosures:

At the time the article was last revised Frank Gaillard had no recorded disclosures.

View Frank Gaillard's current disclosures

Revisions:

1 time, by 1 contributor - see full revision history and disclosures

Systems:

Central Nervous System, Paediatrics

Synonyms:

Pseudoadrenoleukodystrophy
Pseudo-neonatal adrenoleukodystrophy

Peroxisomal acyl-CoA oxidase deficiency, also known as pseudo-neonatal adrenoleukodystrophy or just pseudoadrenoleukodystrophy, is a very rare autosomal recessive inborn error of metabolism due to deficiency of the enzyme Acyl-Coa oxidase (encoded by ACOX1 gene, 17q25.1) that results in the accumulation of very long chain fatty acids ¹. The condition shares some similarities with the far more common X-linked adrenoleukodystrophy.