Mitochondrial diseases in South Asia - A systematic review

Abstract

Background: Mitochondrial diseases are largely underdiagnosed due to their heterogeneity in clinical presentation and genotype. This is especially true for resource-constrained settings in South Asian countries such as Afghanistan, Bangladesh, Bhutan, India, Maldives, Pakistan, Nepal, Sri Lanka and Myanmar. This study aims to evaluate the current status of clinical presentations, diagnosis and treatment of Mitochondrial diseases in the South Asian region.

Methods: We undertook a systematic review of the literature on mitochondrial diseases in the South Asian region. We searched Medline, Pubmed, Cochrane library, and Google scholar using the search terms, "Mitochondrial diseases" AND "Metabolic diseases" (Mesh terms) in the title or the abstract field for each South Asian Country (Afghanistan, Bangladesh, Bhutan, India, Maldives, Pakistan, Nepal, Sri Lanka and Myanmar).

Results: We found 89 citations in Pubmed, 22 citations in Cochrane library and 68 in Google scholar respectively. A total of 25 non-duplicated studies met the inclusion and exclusion criteria. After assessing the quality of the published studies 18 were included. Which comprised of 17 case reports and one case-control study.

Conclusion: Studies that were published were case reports from India, Pakistan, and Sri Lanka. Due to the paucity of published data on mitochondrial diseases in the South Asian region, it is difficult to estimate its true burden.

Keywords: Genetic diagnosis; Mitochondrial diseases; Rare diseases; South Asia.