Evidence map›Paper›PMID 39738911›Full record

ArticleMolecular biology reports2024

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

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

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Article in Molecular biology reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Sumreena MansoorTranslational Genomics Laboratory, COMSATS University Islamabad, Taramri Chock, Park Road, Islamabad, 45550, Pakistan.
Qamar AliDepartment of Pediatrics, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan.
Sabeen Abid KhanDepartment of Pediatrics, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan.
Munir Iqbal MalikDepartment of Pediatrics, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan.
Muhammad ImranDepartment of Pediatrics, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan.
Raheel QamarScience and Technology Sector, ICESCO, Rabat, 10104, Morocco.
Maleeha AzamTranslational Genomics Laboratory, COMSATS University Islamabad, Taramri Chock, Park Road, Islamabad, 45550, Pakistan. malihazam@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMethylmalonic 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

resultsIn 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.

conclusionsIdentification 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.

Indexed as

Amino Acid Metabolism, Inborn ErrorsExome SequencingMethylmalonyl-CoA MutasePedigreeAllelesCarnitineConsanguinityFemaleHumansMaleMutationPakistanCarnitineMethylmalonyl-CoA MutaseInborn error of metabolismMethylmalonic aciduriaMMUT geneMut(0)Therapeutic approach

Identifiers

PMID39738911

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