lethal encephalopathy due to mitochondrial and peroxisomal fission defect
ORPHA: 330050
Overview
human disease
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 lethal encephalopathy due to mitochondrial and peroxisomal fission defect, sourced from HPO and Orphanet clinical annotations.
Abnormality of the mitochondrionNystagmusOptic atrophySeizureGlobal developmental delayAbsent speechStatus epilepticusIncreased circulating lactate concentrationDevelopmental regressionInability to walkElevated brain lactate level by MRSBrain imaging abnormalityStrabismusCerebellar atrophyGait disturbanceDystoniaTremorBilateral ptosisBilateral tonic-clonic seizureGeneralized myoclonic seizureAphasiaFocal impaired awareness seizureDiffuse cerebral atrophyScoliosisSkeletal muscle atrophyHyperactive deep tendon reflexesFocal-onset seizureOculogyric crisisGastrostomy tube feeding in infancyDelayed menarche
Classification & Codes
Orphanet Code
ORPHA:330050lethal encephalopathy due to mitochondrial and peroxisomal fission defect
| Orphanet | ORPHA:330050 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO