title: Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis.
abstract: We report reduced respiratory chain enzyme activity in isolated muscle mitochondria and high levels of serum and CSF pyruvate and lactate in a case of cerebrotendinous xanthomatosis. These findings raise the question of the pathogenetic role of mitochondrial dysfunction in this syndrome.
authors.affiliation: Istituto di Scienze Neurologiche, Policlinico Le Scotte, U.O. Malattie Neurometaboliche, Università di Siena, Italy.
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: L
authors.initials: L
authors.lastname: Manneschi
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000328:Adult; D001706:Biopsy; D001927:Brain Diseases / Q000201:enzymology*; D004579:Electron Transport / Q000502:physiology; D005260:Female; D006801:Humans; D007773:Lactates / Q000378:metabolism*; D019344:Lactic Acid; D008931:Mitochondria, Muscle / Q000201:enzymology*; D009132:Muscles / Q000473:pathology; D011773:Pyruvates / Q000378:metabolism*; D019289:Pyruvic Acid; D013710:Tendons / Q000473:pathology*; D014973:Xanthomatosis / Q000201:enzymology* / Q000473:pathology
chemical_list: D007773:Lactates; D011773:Pyruvates; D019344:Lactic Acid; D019289:Pyruvic Acid