Disease

Combined methylmalonic acidemia and homocystinuria, cblC type, digenic1, 2, 3

Gene

PRDX1

Inheritance AR
Current Treatments cobalamin, carnitine & diet
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test serum amino acids, urine organic acids4
Disease Frequency (per 100,000) 1.55
Genes Included in Disease Frequency MMUT, MMAA, MMAB, MMADHC, MMACHC, MCEE, PRDX1, HCFC1, THAP11, ZNF143, LMBRD1, ABCD4, CD320
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Methylmalonic+Acidemia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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