Disease

Propionic acidemia 11, 2

Gene

PCCA

Inheritance AR
Current Treatments diet, carnitine, biotin, metronidazole, liver transplantation, N-carbamylglutamate
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test serum amino acids, urine organic acids4
Disease Frequency (per 100,000) 0.335
Genes Included in Disease Frequency PCCA and PCCB
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Propionic+acidemia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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