peroxisomal acyl-CoA oxidase deficiency
MeSH: C536662ORPHA: 2971
Overview
peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with peroxisomal acyl-CoA oxidase deficiency, sourced from HPO and Orphanet clinical annotations.
EpicanthusHypertelorismLow-set earsSensorineural hearing impairmentStrabismusAbnormal electroretinogramMyopiaNystagmusOptic atrophyAbnormality of visual evoked potentialsHypodontiaHand polydactylySeizureHypotoniaGlobal developmental delayHypertoniaGait disturbanceHyperreflexiaFailure to thriveAbnormality of metabolism/homeostasisRespiratory insufficiencyAbnormal speech patternHepatomegalyEEG abnormalityDevelopmental regressionDepressed nasal bridgeSevere intellectual disabilityAbnormal nervous system morphology
Classification & Codes
MeSH Code
C536662Orphanet Code
ORPHA:2971peroxisomal acyl-CoA oxidase deficiency
| MeSH | C536662 |
| Orphanet | ORPHA:2971 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO