Rett syndrome and mitochondrial enzyme deficiencies.
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.
Coker
S B
SB
Department of Neurology, Loyola University Stritch School of Medicine, Section of Genetics, Maywood 60153.
Melnyk
A R
AR
D000293:Adolescent; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006801:Humans; D008931:Mitochondria, Muscle / Q000201:enzymology*; D009245:NADH Dehydrogenase / Q000172:deficiency; D015518:Rett Syndrome / Q000201:enzymology*; D013384:Succinate Cytochrome c Oxidoreductase / Q000172:deficiency
D013384:Succinate Cytochrome c Oxidoreductase; D009245:NADH Dehydrogenase