Rett Syndrome and Mitochondrial Enzyme Deficiencies

Abstract

The etiology of Rett syndrome is unknown. Structural mitochondrial abnormalities have been described in muscle in patients with Rett syndrome. We report three children with Rett syndrome and normal muscle mitochondrial structure on light and electron microscopy. However, all had abnormalities in mitochondrial respiratory chain enzymes. (J Child Neurol 1991;6:164-166).