Disease

Alpha-methylacetoacetic aciduria1

Gene

ACAT1

Inheritance AR
Current Treatments avoid fasting, carnitine, riboflavin, protein restricted diet
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test urine organic acids, plasma acylcarnitine profile2
Disease Frequency (per 100,000) 0.4153
Genes Included in Disease Frequency ACAT1
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=ACAT1&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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