Disease

3-Methylcrotonyl-CoA carboxylase 1 deficiency1

Gene

MCCC1

Inheritance AR
Current Treatments IV glucose during acute episodes, avoid fasting, carnitine, protein restricted diet
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test urine organic acids, plasma acylcarnitine profile, carnitine level1
Disease Frequency (per 100,000) 2.42
Genes Included in Disease Frequency 1:36, 000 MCCC1 and MCCC2
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=mccc1&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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