Peroxisomal acyl-CoA oxidase deficiency

MONDO:0009919

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

Also known as: ACOX1 deficiency, Pseudoadrenoleukodystrophy, peroxisomal acyl-CoA oxidase deficiency, pseudo-NALD, pseudo-neonatal adrenoleukodystrophy, Pseudoneonatal adrenoleukodystrophy, straight-chain acyl-Coa oxidase deficiency

3 clinical trials for this condition and its sub-types, 2 tagged with Peroxisomal acyl-CoA oxidase deficiency itself.

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Where it sits in the disease tree

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↑ Disorder of peroxisomal beta oxidation (2)

Including sub-types (3) Tagged with Peroxisomal acyl-CoA oxidase deficiency (2)

Trials to join now! 1 Not yet finished but already full! 1

Researchers track rare metabolic disorders to unlock secrets

Knowledge-focused Recruiting now

This study follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…

Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:03 UTC

Peroxisomal acyl-CoA oxidase deficiency

Where it sits in the disease tree

Researchers track rare metabolic disorders to unlock secrets