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systemic primary carnitine deficiency

MeSH: C536778ORPHA: 158

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy

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 systemic primary carnitine deficiency, sourced from HPO and Orphanet clinical annotations.

Neck muscle weaknessConfusionMuscle weaknessVomitingHepatomegalyClumsinessElevated circulating hepatic transaminase concentrationAcute encephalopathyBilateral tonic-clonic seizure with focal onset

Classification & Codes

MeSH Code

C536778

Orphanet Code

ORPHA:158
systemic primary carnitine deficiency
MeSHC536778
OrphanetORPHA:158
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO