TY - CHAP M1 - Book, Section TI - Complex I Deficiency A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - This is the most common type of respiratory chain disease. Complex I is the largest respiratory chain complex and involved in numerous clinical conditions (see Table C-1). Forty-six polypeptide subunits form Complex I, of which seven are encoded by mitochondrial DNA (mtDNA) and the residual 39 by nuclear DNA (nDNA). The major subunits are flavoprotein, iron-sulfur protein, and hydrophobic fraction. Complex I is involved in the electron transport from NADH to ubiquinone, from where the electrons are transported to the next respiratory chain complex. This is the most commonly identified respiratory chain disease phenotype, which is most likely related to the large number of subunits encoded by both, nuclear and mitochondrial DNA and the size of the complex subunit. Complex I deficiency is often part of a combined deficiency because deficiencies in other complexes may result in a loss of Complex I function. It is the result of a number of situations where mtDNA point mutations are associated with deletions. In the absence of known mtDNA abnormalities, it may be associated with fatal infantile encephalomyopathy. As an isolated deficit, the clinical presentation occurs at the age of 4 to 5 months and in about 70% of patients death occurs within 2 years. Severe lactic acidosis occurs in 85% of patients. Most infants also present with severe cardiomyopathy, childhood encephalopathy, macrocephaly with progressive leukodystrophy, hepatomegaly, and real tubulopathy. The most frequent myopathy is known as ☞MELAS Syndrome. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164066340 ER -