X-linked adrenoleukodystrophy
ICD-10: E71.3MeSH: D000326ORPHA: 431 Treatment Available
Overview
peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Lorenzo's oil | Oral liquid | — | 3 | — |
Clinical Presentation
Signs and symptoms associated with X-linked adrenoleukodystrophy, sourced from HPO and Orphanet clinical annotations.
Abnormality of visionVisual impairmentVisual lossAtypical behaviorDementiaHyperactivityIntellectual disabilityGait disturbanceSpecific learning disabilityProgressive hearing impairmentAbnormality of metabolism/homeostasisIncoordinationClumsinessHeadacheParaparesisSomatic sensory dysfunctionFunctional motor deficitAttention deficit hyperactivity disorderProgressive spastic paraparesisLeg muscle stiffnessCognitive impairmentNeurogenic bladderAggressive behaviorDisinhibitionAdrenal insufficiencyVisual field defectHemiparesisAphasiaIncreased intracranial pressureUrinary bladder sphincter dysfunctionIncreased circulating ACTH levelAbnormal sexual behaviorAbnormality of adrenal physiologyDiplopiaImpotenceParalysis
Classification & Codes
ICD-10 Code
E71.3MeSH Code
D000326Orphanet Code
ORPHA:43X-linked adrenoleukodystrophy
| ICD-10 | E71.3 |
| MeSH | D000326 |
| Orphanet | ORPHA:43 |
| Treatments | 1 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO