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

Molecular biology reports - 31 Dec 2024

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

Abstract excerpt

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...

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PMID: 39738911
DOI: 10.1007/s11033-024-10194-4

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