Disease

Carnitine-acylcarnitine translocase deficiency1, 2, 3

Gene

SLC25A20

Inheritance AR
Current Treatments high-carbohydrate, low-fat diet, medium chain triglycerides, frequent feeds, carnitine, avoid fasting, triheptanoin
Evidence for Treatment expert opinion
Non-Molecular Testing Availability no
Disease Frequency (per 100,000) 0.44
Genes Included in Disease Frequency SLC25A20
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=SLC25A20&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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