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 Completed 1

New diagnostic strategy aims to end diagnostic odyssey for rare diseases

Diagnosis Completed

This study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…

Sponsor: University Hospital, Lille • Aim: Diagnosis

Last updated Jun 27, 2026 08:02 UTC

Peroxisomal acyl-CoA oxidase deficiency

Where it sits in the disease tree

New diagnostic strategy aims to end diagnostic odyssey for rare diseases