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Case Reports in Genetics
Volume 2017 (2017), Article ID 8984951, 2 pages
https://doi.org/10.1155/2017/8984951
Case Report

Methylmalonic Acidemia with Novel MUT Gene Mutations

Department of Pediatrics, Advanced Pediatric Centre, PGIMER, Chandigarh, India

Correspondence should be addressed to Inusha Panigrahi; moc.oohay@napuni

Received 6 June 2017; Revised 5 August 2017; Accepted 14 September 2017; Published 12 October 2017

Academic Editor: Yoshiyuki Ban

Copyright © 2017 Inusha Panigrahi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively. Recently he developed dystonic movements including orofacial dyskinesia. With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations.