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Methylmalonyl-CoA Mutase Deficiency: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Systematic literature review on the methylmalonic acid level changes in transplanted patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
Tamás Zelei et al., Journal of Rare Diseases (8 July 2026)
https://doi.org/10.1007/s44162-026-00214-1
- 2.
Additional file 1 of Systematic literature review on the methylmalonic acid level changes in transplanted patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
Tamás Zelei et al., Figshare (8 July 2026)
https://doi.org/10.6084/m9.figshare.32944150
- 3.
Additional file 1 of Systematic literature review on the methylmalonic acid level changes in transplanted patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
Tamás Zelei et al., Figshare (8 July 2026)
https://doi.org/10.6084/m9.figshare.32944150.v1
- 4.
Systematic literature review on the methylmalonic acid level changes in transplanted patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
Tamás Zelei et al., Figshare (8 July 2026)
https://doi.org/10.6084/m9.figshare.c.8583853
- 5.
Systematic literature review on the methylmalonic acid level changes in transplanted patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
Tamás Zelei et al., Figshare (8 July 2026)
https://doi.org/10.6084/m9.figshare.c.8583853.v1
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Methylmalonyl-CoA Mutase Deficiency
Methylmalonyl-CoA mutase deficiency is a rare inherited metabolic disorder in which the body cannot fully break down some proteins and fats, so methylmalonic acid builds up. Babies may have vomiting, poor feeding, low muscle tone and episodes of metabolic crisis. Unlike related forms, it does not respond to vitamin B12. Care involves a low-protein diet, carnitine and urgent treatment of crises.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Methylmalonyl-CoA Mutase Deficiency is very rare and little research has been published, so this page includes research from every year, including case reports about individual patients. Case reports are marked, and describe one person's experience rather than tested results.
Most Recent Research
Abstract Purpose Methylmalonic acidemia is caused by impaired metabolism of certain amino acids, odd-chain fatty acids and cholesterol side chains. One of the most severe forms of methylmalonic acidemia is caused by complete (mut0) or partial (mut-) deficiency of the methylmalonyl-coenzyme A mutase enzyme. The aim of this study was to examine the methylmalonic acid (MMA) levels in various body fluids (serum/plasma/blood or urine) of mutase deficient methylmalonic acidemia patients prior to and after liver (LT) or combined liver and kidney transplantation (LKT). Method Four databases were queried: Medline (via PubMed), Embase, Cochrane Database of Systematic Reviews, and PROSPERO from inception until February 3, 2025. Results A total of 26 articles including 176 patients with the mut subtype of methylmalonic acidemia, who underwent either LT or LKT were included. Both aggregated and individual-level data indicated a consistent and substantial reduction in MMA levels following LT and LKT. Differences between the paired plasma MMA samples of individual patients pre- and post-transplantation were significant in both LT ( n = 25; median of differences -74.5% relative to baseline; p -value < 0.0001) and LKT patients ( n = 14; median of differences = -88% relative to baseline; p -value < 0.001). Additionally, a significant decrease in urine MMA levels was observed post-transplant compared to pre-transplant in both LT ( n = 16; median of differences = -66.6% relative to baseline; p -value < 0.0001) and LKT ( n = 11; median of differences = -79.0% relative to baseline; p -value < 0.001). Conclusion Acknowledging that methylmalonic acidemia patients with transplants exhibit considerable intra- and interpatient variability in MMA levels, the substantial relative decrease observed after transplantation suggests that transplantation has a significant impact on MMA levels. Future research should investigate the correlation between decreasing MMA levels and improvements in metabolic stability and clinical outcomes after transplantation.
Common Questions
What is Methylmalonyl-CoA Mutase Deficiency?
Methylmalonyl-CoA mutase deficiency is a rare inherited metabolic disorder in which the body cannot fully break down some proteins and fats, so methylmalonic acid builds up. Babies may have vomiting, poor feeding, low muscle tone and episodes of metabolic crisis. Unlike related forms, it does not respond to vitamin B12. Care involves a low-protein diet, carnitine and urgent treatment of crises.
How many clinical trials are available for Methylmalonyl-CoA Mutase Deficiency?
No clinical trials are currently indexed for Methylmalonyl-CoA Mutase Deficiency. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Methylmalonyl-CoA Mutase Deficiency come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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