Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency: genes and variants

Genes linked to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

• MMUT: Methylmalonyl-CoA mutase, mitochondrial

  It converts methylmalonyl-CoA to succinyl-CoA in mitochondria using adenosylcobalamin as a cofactor. Biallelic loss-of-function variants cause isolated methylmalonic acidemia, which can lead to metabolic acidosis, hyperammonemia, neurologic injury, and chronic kidney disease.

  55 disease-causing and 68 uncertain variants in MMUT are linked to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency.

Known disease-causing variants in Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Uncertain variants in Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency that look disease-causing

Same protein, different disease

• Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency is also caused by MMUT variants; they fall partly in the same places as the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency variants (53 disease-causing).
• Methylmalonic acidemia is also caused by MMUT variants; they fall partly in the same places as the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency variants (32 disease-causing).

Diseases related to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

• Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, also linked to MMUT
• Methylmalonic acidemia, also linked to MMUT
• Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, also linked to MMUT
• Likely inborn error of metabolism, also linked to MMUT

Frequently asked questions

Which genes are linked to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency?

In CATVariant, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency is linked to 1 analyzed protein: MMUT (Methylmalonyl-CoA mutase, mitochondrial).

How many genetic variants are linked to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency?

226 variants: 55 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 68 are of uncertain significance or have conflicting reports.

Which uncertain variants in Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency look disease-causing?

4 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example MMUT T387K, MMUT N189S, MMUT C560Y and MMUT P615R. These are leads for expert review, not diagnoses.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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