The correlation between pathology, biochemistry and molecular genetics in mitochondrial encephalomyopathies

Abstract

Most of the patients included in the present study are paediatric cases from various parts of Sweden but also from other Scandinavian countries. To discover patients with possible mitochondrial diseases, elevated levels of lactate in blood, in combination with myopathy or encephalopathy of unexplained type, have been the factors of most importance. In addition, patients without lactic acidosis but with clinical symptoms suggestive of mitochondrial disease have been thoroughly investigated with respect to mitochondrial dysfunction. In this way some 70 patients have been studied by clinical examination in addition to biochemical and morphological studies on muscle mitochondria. Among these 70 patients 37 patients had morphological and/or biochemical evidence of mitochondrial myopathy. We have not included primary carnitine deficiency or defects of fatty acid β-oxidation in this material.