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Purpose <p>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).</p> Method <p>Four databases were queried: Medline (via PubMed), Embase, Cochrane Database of Systematic Reviews, and PROSPERO from inception until February 3, 2025.</p> Results <p>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 (<i>n</i> = 25; median of differences -74.5% relative to baseline; <i>p</i>-value &lt; 0.0001) and LKT patients (<i>n</i> = 14; median of differences = -88% relative to baseline; <i>p</i>-value &lt; 0.001). Additionally, a significant decrease in urine MMA levels was observed post-transplant compared to pre-transplant in both LT (<i>n</i> = 16; median of differences = -66.6% relative to baseline; <i>p</i>-value &lt; 0.0001) and LKT (<i>n</i> = 11; median of differences = -79.0% relative to baseline; <i>p</i>-value &lt; 0.001).</p> Conclusion <p>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.</p>

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Systematic literature review on the methylmalonic acid level changes in transplanted patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月8日

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  • Tamás Zelei,
  • Kristóf Gyöngyösi,
  • Máté Pálfi,
  • Adina Turcu-Stiolica,
  • Bertalan Németh,
  • Zoltán Vokó,
  • Vanja Sikirica,
  • Patrick Burkett,
  • Geetanjoli Banerjee

摘要

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.