Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) in a Child with Homozygous TYMP c.928+1G>A Mutation: A Case Report from South India
Year: 2025
Type: article
Study design: Case Report
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.
Authors: Pazhaniyandi Pillai K, Sriramakrishnan V
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4413808985