Disease

Carnitine palmitoyltransferase II deficiency1, 2, 3

Gene

CPT2

Inheritance AR
Current Treatments bezafibrate, High-carbohydrate (70%) and low-fat (<20%) diet to provide fuel for glycolysis, carnitine, one third of the calories as even-chain medium chain triglycerides (MCT), triheptanoin
Evidence for Treatment expert opinion
Non-Molecular Testing Availability no
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1022
Disease Frequency (per 100,000) 0.214
Genes Included in Disease Frequency CPT2
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Carnitine+Palmitoyl+Transferase&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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