• Users Online: 111
  • Print this page
  • Email this page
Year : 2022  |  Volume : 7  |  Issue : 2  |  Page : 81-83

A case report of methylmalonic acidemia associated with CYBT gene mutation

1 Department of Pediatric Neurology, Institute of Pediatric Neurodisorder and Autism (IPNA), Dhaka, Bangladesh
2 Department of Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh

Correspondence Address:
Dr. Kanij Fatema
Department of Pediatric Neurology, IPNA, Bangabandhu Sheikh Mujib Medical University, Dhaka
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/pnjb.pnjb_12_22

Rights and Permissions

Mutation in mitochondrial cytochrome b (CYTB) gene is associated with severely impaired complex III activity and oxidative phosphorylation and commonly presents with mitochondrial myopathy, exercise intolerance, and often multisystem involvement. We report a rare case of Methylmalonic acidemia who was finally found to have a pathogenic novel missense mutation (m.14766C>T, p.Thr7IIe) in the CYTB gene.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded27    
    Comments [Add]    

Recommend this journal