title: Gastrointestinal manifestations of mitochondrial disease.
abstract: Although non-specific gastrointestinal and hepatic symptoms are commonly found in most mitochondrial disorders, they are among the cardinal manifestations of several primary mitochondrial diseases, such as: mitochondrial neurogastrointestinal encephalomyopathy; mitochondrial DNA depletion syndrome; Alpers syndrome; and Pearson syndrome. Management of these heterogeneous disorders includes the empiric supplementation with various "mitochondrial cocktails," supportive therapies, and avoidance of drugs and conditions known to have a detrimental effect on the respiratory chain. There is a great need for improved methods of treatment and controlled clinical trials of existing therapies. Liver transplantation is successful in acquired cases; however neuromuscular involvement in primary mitochondrial disorders should be a contraindication for liver transplantation.
authors.affiliation: Division of Gastroenterology and Nutrition, Department of Pediatrics, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, 34th St. and Civic Center, Blvd., Philadelphia, PA 19104, USA.
authors.forename: Lynette A
authors.initials: LA
authors.lastname: Gillis
authors.forename: Ronald J
authors.initials: RJ
authors.lastname: Sokol
mesh_terms: D004272:DNA, Mitochondrial / Q000096:biosynthesis / Q000235:genetics / Q000502:physiology; D005767:Gastrointestinal Diseases / Q000145:classification / Q000209:etiology*; D006801:Humans; D008107:Liver Diseases / Q000145:classification / Q000209:etiology*; D028361:Mitochondrial Diseases / Q000150:complications* / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D010085:Oxidative Phosphorylation; D017382:Reactive Oxygen Species / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D017382:Reactive Oxygen Species