Disease

Primary systemic carnitine deficiency1

Gene

SLC22A5

Inheritance AR
Current Treatments carnitine, frequent feeding and avoiding fasting
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test plasma carnitine levels1
Disease Frequency (per 100,000) 0.72
Genes Included in Disease Frequency SLC22A5
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Carnitine+Deficiency&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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