Disease

Monocarboxylate transporter 8 deficiency1, 2, 3

Gene

SLC16A2

Inheritance XL
Current Treatments Emcitate (tiratricol/triiodothyroacetic acid/TRIAC)
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test TSH, free T3, free T41
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Monocarboxylate+Transporter+8+%28Mct8%29+Deficiency&term=&cntry=&state=&city=&dist=
Last Updated: September 30, 2026
RX Genes
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