Methylmalonic acidemia caused by Homozygous Missense variant c.1837C>T in Exon 11 of the MMUT gene which is Variant of Uncertain Significance: A Case Report
Author(s): G Durga Phani Kumar, Mashingbonio Dirinamai, Bhutwala Senky Manishkumar, Susheel kumar Saini, Ajay kumar Saini, Seema kumari
Methylmalonic academia (MMA) is an autosomal recessive Inborn Error of Metabolism originating from a disorder of propionate metabolism. Although rare, it is one of the most frequent inborn errors of organic acid metabolism. The disease can manifest itself in the neonatal period or have late onset in childhood. The therapy is based on protein restriction and carnitine supplementation. The case report presents 10 months old male child who came with complaint of fever, loose stools and severe dehydration. On workup he was diagnosed as a case of isolated Methylmalonic acidemia. Clinical Exome sequencing based gene panel study showed a Homozygote Missense variant c.1837C>T in Exon 11 of the MMUT gene that resulted in the amino acid substitution p. Arg613Cys. Thus, the advanced genetic analysis along with clinical findings and typical imaging will help in appropriate diagnosis and management of the Inborn Error of Metabolism.