peroxisomal acyl-CoA oxidase deficiency
Findings
No curated finding names peroxisomal acyl-CoA oxidase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009919), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal onset
HPO, annotations 2026-09-02
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Developmental regressionHPOHP:0002376
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Neonatal hypotoniaHPOHP:0001319
- 2 of 2 reported patients
- Reduced circulating acyl-CoA oxidase activityHPOHP:6000217
- 3 of 3 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Very long chain fatty acid accumulationHPOHP:0008167
- 2 of 2 reported patients
Show the remaining 21
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- HypodontiaHPOHP:0000668
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- 3 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACOX1HGNC:119
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: peroxisomal acyl-CoA oxidase deficiency
- Also called
- ACOX1 deficiencypseudo-NALDpseudo-neonatal adrenoleukodystrophyPseudoadrenoleukodystrophy