Methylmalonic Acidemia with Novel MUT Gene Mutations
Joint Authors
Panigrahi, Inusha
Bhunwal, Savita
Varma, Harish
Singh, Simranjeet
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-2, 2 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-10-12
Country of Publication
Egypt
No. of Pages
2
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Panigrahi, Inusha& Bhunwal, Savita& Varma, Harish& Singh, Simranjeet. 2017. Methylmalonic Acidemia with Novel MUT Gene Mutations. Case Reports in Genetics،Vol. 2017, no. 2017, pp.1-2.
https://search.emarefa.net/detail/BIM-1145377
Modern Language Association (MLA)
Panigrahi, Inusha…[et al.]. Methylmalonic Acidemia with Novel MUT Gene Mutations. Case Reports in Genetics No. 2017 (2017), pp.1-2.
https://search.emarefa.net/detail/BIM-1145377
American Medical Association (AMA)
Panigrahi, Inusha& Bhunwal, Savita& Varma, Harish& Singh, Simranjeet. Methylmalonic Acidemia with Novel MUT Gene Mutations. Case Reports in Genetics. 2017. Vol. 2017, no. 2017, pp.1-2.
https://search.emarefa.net/detail/BIM-1145377
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145377
