title: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.
abstract: BACKGROUND
  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder characterized by severe gastrointestinal dysmotility and leads to cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy, and leukoencephalopathy.
  
  
  CONCLUSIONS
  It is often misdiagnosed as anorexia nervosa or intestinal pseudoobstuctions and are unnecessarily treated with surgery. It has been established that MNGIE is caused by mutations in the gene encoding thymidine phosphorylase, which lead to absolute or nearly complete loss of its catalytic activity, producing systemic accumulations of its substrates, thymidine and deoxyuridine.
  
  
  CONCLUSIONS
  We present herein the clinical, neuroimaging, and molecular findings of a patient with MNGIE caused by a novel homozygous TYMP gene mutation (c.112G>T which convert codon 38 from glutamate to a stop codon [p.38E>X]).
authors.affiliation: Pediatric Gastroenterology, Gazi University Hospital, Ankara, Turkey. zeren_baris@yahoo.com
authors.forename: Zeren
authors.initials: Z
authors.lastname: Bariş
authors.forename: Tuba
authors.initials: T
authors.lastname: Eminoğlu
authors.forename: Buket
authors.initials: B
authors.lastname: Dalgiç
authors.forename: Leyla
authors.initials: L
authors.lastname: Tümer
authors.forename: Alev
authors.initials: A
authors.lastname: Hasanoğlu
mesh_terms: D000293:Adolescent; D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D039141:Muscular Dystrophy, Oculopharyngeal; D009154:Mutation; D009886:Ophthalmoplegia / Q000151:congenital; D013939:Thymidine Phosphorylase / Q000235:genetics* / Q000378:metabolism; D028361:Mitochondrial Diseases
chemical_list: D004247:DNA; C543750:TYMP protein, human; D013939:Thymidine Phosphorylase