Mitochondrial neurogastrointestinal encephalomyopathy disease in three siblings from Pakistan with a novel mutation
Document Type
Report
Department
Medical College Pakistan
Abstract
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem autosomal recessive disorder. The disease is clinically heterogeneous with gastrointestinal symptoms of intestinal dysmotility and cachexia as well as neurological symptoms of ophthalmoplegia, neuropathy, sensorineural hearing impairment, and diffuse leukoencephalopathy being most prominent. MNGIE is caused by mutations in TYMP , a gene that encodes thymidine phosphorylase (TP)-a cytosolic enzyme. Mutations in TYMP lead to very low TP catalytic activity, resulting in dramatically increased thymidine and deoxyuridine in plasma. We describe the clinical, biochemical, and neuroimaging findings of three boys with MNGIE from a Pakistani family with a novel homozygous mutation, c.798_801dupCGCG p. (Ala268Argfs*?), in exon 7 of TYMP
Publication (Name of Journal)
Journal of Pediatric Genetics
Recommended Citation
Durrani, S.,
Chen, B. C.,
Yakob, Y.,
Hian, L. S.,
Afroze, B.
(2019). Mitochondrial neurogastrointestinal encephalomyopathy disease in three siblings from Pakistan with a novel mutation. Journal of Pediatric Genetics, 8(1), 15-19.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/752