| CASE REPORT |
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| Year : 2022 | Volume
: 7
| Issue : 2 | Page : 81-83 |
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A case report of methylmalonic acidemia associated with CYBT gene mutation
Rumana Islam1, Mizanur Rahman2, Kanij Fatema1
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
Bangladesh
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/pnjb.pnjb_12_22
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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. |
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