Disease

Methylmalonic acidemia, mut(0) type1, 2, 3

Gene

MMUT

Inheritance AR
Current Treatments cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant
Evidence for Treatment guideline4
Non-Molecular Testing Availability yes
Non-Molecular Test serum amino acids, urine organic acids5
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC122
Disease Frequency (per 100,000) 1.56
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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