carnitine-acylcarnitine translocase deficiency
MeSH: C562812ORPHA: 159
Overview
medical condition
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 carnitine-acylcarnitine translocase deficiency, sourced from HPO and Orphanet clinical annotations.
LethargyGlobal developmental delayEncephalopathyMuscle weaknessCardiomyopathyHypoketotic hypoglycemiaHyperammonemiaRespiratory insufficiencyHepatomegalyHypotensionElevated circulating hepatic transaminase concentrationFasting hypoglycemiaRhabdomyolysisDicarboxylic aciduriaDecreased circulating carnitine concentrationVentricular tachycardiaElevated creatine kinase after exerciseArrhythmiaElevated circulating acylcarnitine concentrationIrritabilityMicrocephalyNystagmusCyanosisSeizureComaHepatic failureHypothermiaSudden episodic apneaOliguria
Classification & Codes
MeSH Code
C562812Orphanet Code
ORPHA:159carnitine-acylcarnitine translocase deficiency
| MeSH | C562812 |
| Orphanet | ORPHA:159 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO