Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) in a Child with Homozygous TYMP c.928+1G>A Mutation: A Case Report from South India

Dr. Pazhaniyandi Pillai K., Dr. Sriramakrishnan V.

Abstract: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is an ultra-rare autosomal recessive mitochondrial disorder caused by mutations in the TYMP gene. It classically presents with gastrointestinal dysmotility, ptosis, ophthalmoplegia, peripheral neuropathy and diffuse leukoencephalopathy. We report a genetically confirmed case of MNGIE in a 12-year-old boy from South India, born of second-degree consanguineous parents, with a family history of a similarly affected sibling. Genetic testing revealed a homozygous pathogenic variant c.928+1G>A in intron 7 of the TYMP gene. This case underscores the need for heightened clinical suspicion and early molecular diagnosis, especially in regions with prevalent consanguinity.

Keywords: MNGIE, TYMP mutation, mitochondrial disorder, gastrointestinal dysmotility, pediatric myopathy, consanguinity, leukoencephalopathy

How to Cite?: Dr. Pazhaniyandi Pillai K., Dr. Sriramakrishnan V., "Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) in a Child with Homozygous TYMP c.928+1G>A Mutation: A Case Report from South India", Volume 14 Issue 8, August 2025, International Journal of Science and Research (IJSR), Pages: 1449-1450, https://www.ijsr.net/getabstract.php?paperid=SR25826220939, DOI: https://dx.doi.org/10.21275/SR25826220939