Disease

Isovaleric acidemia1

Gene

IVD

Inheritance AR
Current Treatments low protein diet, l-carnitine, glycine
Evidence for Treatment guideline2, 3
Non-Molecular Testing Availability yes
Non-Molecular Test Urine organic acids1
Disease Frequency (per 100,000) 0.44
Genes Included in Disease Frequency IVD
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=ISOVALERIC&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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