TY - CHAP M1 - Book, Section TI - Complex V Deficiency A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Complex V (Adenosine triphosphate [ATP] synthase) couples proton flow from the intermembraneous space back to the mitochondrial matrix with the conversion of ADP and inorganic phosphate to ATP. Mitochondrial ATP synthase is a multi-subunit enzyme that catalyzes ATP synthesis during oxidative phosphorylation. The complete loss of ATP synthase enzyme activity is most likely incompatible with life. However, partial loss or Complex V deficiency, reflected by a lower amount of functional ATP-synthase, causes a medical condition characterized by progressive myopathy, hypertrophic cardiomyopathy, seizures, and severe lactic acidosis. It is often associated with evidence of brainstem degeneration leading to coma. The presence of methyl glutaconic aciduria can be a major clue in the diagnosis of Complex V deficiency in an infant. Only a few cases have been described in the literature. The clinical features include mental retardation, craniofacial dysmorphism with prominent nasal bridge, micro-/retrognathia and low-set ears, and genital anomalies (cryptorchidism, hypospadias). Progressive muscle hypotonia, hypertrophic cardiomyopathy, hepatomegaly, severe lactic acidosis, hyperammonemia, and intermittent 3-methylglutaconic aciduria are often present. Death usually occurs within the first week of life and is caused by heart failure. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/13 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164066378 ER -