Disease

3-hydroxy-3-methylglutaryl-CoA synthase deficiency1, 2, 3

Gene

HMGCS2

Inheritance AR
Current Treatments IV glucose during acute episodes, avoid prolonged fasting
Evidence for Treatment expert opinion
Non-Molecular Testing Availability no
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=HMGCS2&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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