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Background <p>Methylmalonic acidemia (MMA), type mut (0) is a rare type of genetic inborn error of metabolism (IEM) that is caused by aberrant malonyl-CoA mutase activity. Diagnosing IEM can be challenging due to its inherited onset and varying degrees of severity.</p> Methods and results <p>In the present study, a consanguineous Pakistani family suspected of IEM was genetically analyzed using whole exome sequencing. A biallelic variant c.689&#xa0;C &gt; G (p.Thr230Arg) in <i>MMUT</i> was identified to be the causative factor of the disease, which helped in establishing the accurate diagnosis in the family to be MMA mut(0) type. On the basis of the genetic findings, the patient’s condition was appropriately managed through a supportive nutrition plan and administration of oral L-carnitine.</p> Conclusions <p>Identification of <i>MMUT</i> mutation through whole exome sequencing was helpful in solving the family and devising targeted management strategies. This study highlights the utility of genetic analysis in diagnosing and treating metabolic disorders like MMA in Pakistani inbred population.</p>

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Identification of a biallelic MMUT variant (p.Thr230Arg) and its global perspective on clinical management

  • 期刊论文

  • 发表日期：

    2024年12月31日

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  • Sumreena Mansoor,
  • Qamar Ali,
  • Sabeen Abid Khan,
  • Munir Iqbal Malik,
  • Muhammad Imran,
  • Raheel Qamar,
  • Maleeha Azam

摘要

Background

Methylmalonic acidemia (MMA), type mut (0) is a rare type of genetic inborn error of metabolism (IEM) that is caused by aberrant malonyl-CoA mutase activity. Diagnosing IEM can be challenging due to its inherited onset and varying degrees of severity.

Methods and results

In the present study, a consanguineous Pakistani family suspected of IEM was genetically analyzed using whole exome sequencing. A biallelic variant c.689 C > G (p.Thr230Arg) in MMUT was identified to be the causative factor of the disease, which helped in establishing the accurate diagnosis in the family to be MMA mut(0) type. On the basis of the genetic findings, the patient’s condition was appropriately managed through a supportive nutrition plan and administration of oral L-carnitine.

Conclusions

Identification of MMUT mutation through whole exome sequencing was helpful in solving the family and devising targeted management strategies. This study highlights the utility of genetic analysis in diagnosing and treating metabolic disorders like MMA in Pakistani inbred population.