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

Gastrointestinal manifestations of mitochondrial disease.

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1
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.

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.

PMID:
14562575
[Indexed for MEDLINE]
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