Disease

Barth Syndrome1, 2

Gene

TAFAZZIN

Inheritance XL
Current Treatments Cardiac transplantation, granulocyte colony-stimulating factor (G-CSF), uncooked cornstarch given prior to bedtime, elamipretide
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test monolysocardiolipin/cardiolipin (MLCL:L4-CL) ratio testing, urine organic acids1
Disease Frequency (per 100,000) 0.431
Genes Included in Disease Frequency TAFAZZIN
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Barth+Syndrome&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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