About Carnitine Palmitoyltransferase Deficiency
Carnitine palmitoyltransferase (CPT) deficiencies are fatty acid oxidation disorders caused by mutations in CPT1A or CPT2 genes, impairing the transport of long-chain fatty acids into mitochondria for energy production. CPT1 deficiency primarily affects the liver, causing hypoketotic hypoglycemia; CPT2 deficiency has multiple forms ranging from lethal neonatal disease to an adult-onset muscle form causing exercise-induced rhabdomyolysis. Management involves avoidance of prolonged fasting and high-fat diets.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Carnitine Palmitoyltransferase Deficiency trials.
Specify CPT1 versus CPT2 deficiency — they are distinct biochemically and clinically, and trials are subtype-specific
Acylcarnitine profile (elevated C16, C18 in CPT2) on plasma tandem mass spectrometry is a required biomarker
Creatine kinase level and urine myoglobin are key biomarkers for muscle-type CPT2 deficiency trials
Fasting tolerance testing and triglyceride levels are required for hepatic CPT1 trials
Patient Resources
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