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carnitine palmitoyltransferase I deficiency

MeSH: C535588ORPHA: 156

Contents

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

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 carnitine palmitoyltransferase I deficiency, sourced from HPO and Orphanet clinical annotations.

Atypical behaviorSeizureHypotoniaLethargyComaReduced tendon reflexesHepatic failureHypertrophic cardiomyopathySudden cardiac deathAbnormality of metabolism/homeostasisHypoglycemiaRenal tubular acidosisAbnormal speech patternHepatomegalyElevated circulating hepatic transaminase concentrationSkeletal muscle atrophyHemiplegia/hemiparesisLoss of consciousnessTransient hyperlipidemiaArrhythmiaFatigue

Classification & Codes

MeSH Code

C535588

Orphanet Code

ORPHA:156
carnitine palmitoyltransferase I deficiency
MeSHC535588
OrphanetORPHA:156
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO