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Gastroenterol Clin North Am. 2003 Sep;32(3):789-817, v.

Gastrointestinal manifestations of mitochondrial disease.

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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.


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.

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