Polyneuropathy Reveals Origins of Decade-long Gastrointestinal Symptoms in a Patient With Undiagnosed Mitochondrial Neurogastrointestinal Encephalopathy Caused by a Novel Mutation. Issue 2 (December 2020)

• Record Type: Journal Article
• Authors: Darki, Leila; Jalali-Sohi, Arash; Beydoun, Said R.
• Is Part Of: Journal of clinical neuromuscular disease. Volume 22:Issue 2(2020:Dec.)
• Publication Date: 2020-12
• Subjects: MNGIE -- TYMP -- polyneuropathy -- mitochondria -- neurogastrointestinal; Neuromuscular diseases -- Periodicals; 616.744005
• DOI: 10.1097/CND.0000000000000326
• Languages: English
• ISSNs: 1522-0443

Abstract

Abstract : Abstract: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disease that manifests with multiorgan presentation characterized by gastrointestinal, extraocular, and both peripheral and central nervous system involvement. MNGIE is caused by mutation in the TYMP (thymidine phosphorylase) gene, resulting in loss of thymidine phosphorylase enzyme activity. This causes its substrates, thymidine and deoxyuridine, to accumulate in tissues and plasma, while also causing secondary alterations in mitochondrial DNA. To date, more than 80 mutations have been reported in this gene. We present herein the clinical, neuroimaging, electrodiagnostic, and molecular findings of a patient with MNGIE caused by a novel homozygous missense mutation (C1175T > G) of the TYMP gene.