RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164066349 T1 Complex II Deficiency T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9781259861789 LK accesspediatrics.mhmedical.com/content.aspx?aid=1164066349 RD 2024/11/13 AB Complex II Disease is caused by mutations in nuclear DNA. These mutations are defined as a “direct hit” to the genes that encode subunits of respiratory chains complexes. They affect the enzyme Succinate dehydrogenase, which is responsible for the transfer of electrons by reduction of succinate to fumarate in the electron chain pathway (see Table C-1). Deficiency of Complex II is characterized by highly variable phenotypic expression. The clinical features include encephalomyopathy, failure to thrive, severe developmental delay, muscle hypotonia, lethargy, respiratory failure, ataxia, and myoclonic seizures. Lactic acidosis is common. The most frequent clinical condition is ☞Leigh Syndrome.