TY - CHAP M1 - Book, Section TI - Complex II Deficiency A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/10 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164066349 ER -