Disease
Carnitine palmitoyltransferase I deficiency1, 2
Gene
CPT1A
| Inheritance | AR |
|---|---|
| Current Treatments | infants should eat frequently during the day and have cornstarch continuously at night; fasting should not last more than 12 hours during illness, surgery, or medical procedures; adults need a high-carbohydrate, low-fat diet to provide a constant supply of carbohydrate energy and medium-chain triglycerides to provide approximately one third of total calories. Triheptanoin |
| Evidence for Treatment | expert opinion |
| Non-Molecular Testing Availability | yes |
| Non-Molecular Test | plasma acylcarnitine profile, total and free carnitine levels and urine organic acids3 |
| Disease Frequency (per 100,000) | 0.153 |
| Genes Included in Disease Frequency | CPT1A |
| Experimental / Investigational Therapies | https://clinicaltrials.gov/ct2/results?cond=Carnitine+Palmitoyl+Transferase&term=&cntry=&state=&city=&dist= |
References
Last Updated: March 5, 2026