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Therapy of mitochondrial disorders
Author(s) -
Przyrembel H.
Publication year - 1987
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01812853
Subject(s) - carnitine , respiratory chain , mitochondrion , mitochondrial disease , beta oxidation , metabolism , mitochondrial respiratory chain , medicine , fatty acid metabolism , biology , biochemistry , mitochondrial dna , gene
Mitochondrial disorders, namely defects of fatty acid oxidation, defects of pyruvate metabolism and defects of the respiratory chain are heterogenous in clinical picture and in response to therapeutic attempts. Defects of fatty acid metabolism are amenable to therapy by dietary means, carnitine substitution and in some cases with vitamins. Defects in pyruvate metabolism do not respond to therapy except in some special cases. Therapeutic attempts include dietary measures, vitamins as coenzyme precursors. Defects in the respiratory chain appear to respond to treatment only in exceptional cases. Evaluation of treatment effects appears to be singularly difficult. General measures that can be of benefit to different defects are discussed.