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Article

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.

BMC medical genetics - 3 Feb 2020

Habibzadeh Parham, Tabatabaei Zahra, Farazi Fard Mohammad Ali, Jamali Laila, Hafizi Aazam, Nikuei Pooneh, Salarian Leila, Nasr Esfahani Mohammad Hossein, Anvar Zahra, Faghihi Mohammad Ali

Abstract excerpt

BACKGROUND: Methylmalonic acidemia (MMA), which is an autosomal recessive metabolic disorder, is caused by mutations in methylmalonyl-CoA mutase (MUT) gene. As a result, the conversion of methylmalonyl-CoA to succinyl-CoA is impaired in this disorder, leading to a wide range of clinical manifestations varying from no signs or symptoms to severe lethargy and metabolic crisis in newborn infants. Since...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32013889
DOI: 10.1186/s12881-020-0959-8
PMCID: PMC6998079

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