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<p>Methylmalonic aciduria (MMA) is described by high methylmalonic acid concentrations in the blood and urine. This condition can be isolated or in combination with homocystinuria. While variants in the <i>MMUT</i>, <i>MMAA</i>, <i>MMAB</i>, <i>MMADHC</i> and <i>MCEE</i> genes contribute to the pathogenesis of the isolated form, variants in <i>MMACHC</i>, <i>MMADHC</i>, <i>LMBRD1</i>, and <i>ABCD4</i> genes, are responsible for diverse types of combined MMA and homocystinuria. In the current study, we report molecular tests of 15 Iranian patients who had mutations in MMA-related genes. Among the assessed patients, <i>MMACHC</i> gene was the most prevalently mutated gene (mutated in 7 patients). Each of <i>MMAA</i>, <i>MMAB</i>, and <i>MMUT</i> genes were mutated in 2 patients, respectively. Finally, we detected variants in each of <i>ACSF3</i> and <i>ABCD4</i> genes in one case, respectively. Among the identified variants, five variants were not reported before. Cumulatively, the current study provides some data about MMA-related variants among Iranian patients.</p>

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Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月12日

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  • Mohadeseh Fathi,
  • Sheyda Khalilian,
  • Mohammad Miryounesi,
  • Soudeh Ghafouri-Fard

摘要

Methylmalonic aciduria (MMA) is described by high methylmalonic acid concentrations in the blood and urine. This condition can be isolated or in combination with homocystinuria. While variants in the MMUT, MMAA, MMAB, MMADHC and MCEE genes contribute to the pathogenesis of the isolated form, variants in MMACHC, MMADHC, LMBRD1, and ABCD4 genes, are responsible for diverse types of combined MMA and homocystinuria. In the current study, we report molecular tests of 15 Iranian patients who had mutations in MMA-related genes. Among the assessed patients, MMACHC gene was the most prevalently mutated gene (mutated in 7 patients). Each of MMAA, MMAB, and MMUT genes were mutated in 2 patients, respectively. Finally, we detected variants in each of ACSF3 and ABCD4 genes in one case, respectively. Among the identified variants, five variants were not reported before. Cumulatively, the current study provides some data about MMA-related variants among Iranian patients.