carnitine palmitoyltransferase II deficiency
MeSH: C535589ORPHA: 1571 Treatment Available
Overview
lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Bezafibrate | Oral tablet | Approved | 3 | — |
Clinical Presentation
Signs and symptoms associated with carnitine palmitoyltransferase II deficiency, sourced from HPO and Orphanet clinical annotations.
Muscle weaknessMyalgiaReduced tissue carnitine O-palmitoyltransferase 2 activityMyoglobinuriaHyperlipidemiaMyopathyElevated circulating creatine kinase concentrationExercise intoleranceExercise-induced myalgiaDecreased plasma free carnitineDecreased plasma total carnitineRed-brown urineElevated circulating acylcarnitine concentrationSeizureTubulointerstitial nephritisHepatomegalyHeadacheEpisodic abdominal painRhabdomyolysisCold-induced muscle crampsExercise-induced muscle crampsStage 5 chronic kidney diseaseRenal tubular epithelial necrosisIntermittent painful muscle spasmsPolycystic kidney dysplasiaHydrocephalusCystic renal dysplasiaComaAgenesis of corpus callosumPachygyriaCerebellar vermis hypoplasiaHepatic failureCardiomyopathyHypoketotic hypoglycemiaPolymicrogyriaAbnormal basal ganglia morphologyAbnormality of neuronal migrationCerebral calcificationNeonatal respiratory distressHepatic calcificationArrhythmiaAbnormal brain morphology
Classification & Codes
MeSH Code
C535589Orphanet Code
ORPHA:157carnitine palmitoyltransferase II deficiency
| MeSH | C535589 |
| Orphanet | ORPHA:157 |
| Treatments | 1 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO