TY - CHAP M1 - Book, Section TI - Complex IV Deficiency A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Marciniak, Bruno A1 - Dalens, Bernard J. Y1 - 2006 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications AB - Complex IV deficiency, also known as cytochrome c oxidase (COX) deficiency, is a very rare inherited metabolic disorder characterized by the absence of this enzyme. Several medical conditions have been associated with the cytochrome c oxidase deficiency (see Table C-2). Clinical features vary according to the type of skeletal muscles affected by the COX deficiency. Two major forms exist and are determined by the organ involvement: encephalopathic or myopathic. Affected infants with the benign infantile mitochondrial myopathy present similar clinical features than infants affected with the more severe infantile form of the disease, without either cardiac (hypertrophic cardiomyopathy) or kidney dysfunction. In Leigh's Disease (Subacute Necrotizing Encephalomyelopathy), a progressive degeneration of the brain is associated with significant dysfunction of the heart, kidneys, skeletal muscles, and the liver. The COX Deficiency French-Canadian Type affects skeletal muscles, connective tissue, and the liver. As observed in Leigh's Disease, the brain can be involved in this form of COX deficiency. Renal Fanconi Syndrome can be the first manisfestation of Complex IV deficiency (intermittent lactic acidosis). Complex IV is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits. Three of these proteins are encoded by the mitochondrial DNA and the responsible catalytic subunits that carry out the electron transport function. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/10/03 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=58067187 ER -