Gastrointestinal manifestations of mitochondrial disease

Gastroenterol Clin North Am. 2003 Sep;32(3):789-817, v. doi: 10.1016/s0889-8553(03)00052-9.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • DNA, Mitochondrial / biosynthesis
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / physiology
  • Gastrointestinal Diseases / classification
  • Gastrointestinal Diseases / etiology*
  • Humans
  • Liver Diseases / classification
  • Liver Diseases / etiology*
  • Mitochondrial Diseases / complications*
  • Mitochondrial Diseases / epidemiology
  • Mitochondrial Diseases / genetics*
  • Mutation
  • Oxidative Phosphorylation
  • Reactive Oxygen Species / metabolism

Substances

  • DNA, Mitochondrial
  • Reactive Oxygen Species