Erdogan, Mehmet A.Seckin, YukselHarputluoglu, Muhsin M.Karincaoglu, MelihAladag, MuratCaliskan, Ali R.Bilgic, Yilmaz2024-08-042024-08-0420190962-88271473-5717https://doi.org/10.1097/MCD.0000000000000250https://hdl.handle.net/11616/98580Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c.765+1G>C intronic mutation which is expected to disrupt splicing of TYMP in the patient. Family screening revealed that the brother was also affected and the mother was a carrier. MNGIE should be considered and genetic testing instigated if individuals with cachexia have neuromuscular complaints or symptoms of chronic intestinal pseudo-obstruction. Copyright (c) 2018 Wolters Kluwer Health, Inc. All rights reserved.eninfo:eu-repo/semantics/closedAccessautosomal recessive disorderchronic intestinal pseudo-obstructionmitochondrial neurogastrointestinal encephalomyopathythymidine phosphorylaseArticle28122253040721110.1097/MCD.00000000000002502-s2.0-85058690638Q3WOS:000453482200004Q4