Disease

Glutaric acidemia IIC1, 2, 3

Gene

ETFDH

Inheritance AR
Current Treatments riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test Plasma acylcarnitine profile, Urine organic acid analysis, 1
Disease Frequency (per 100,000) 0.44
Genes Included in Disease Frequency ETFA, ETFB, ETFDH, FLAD1
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Glutaric+Acidemia+II&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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