Developmental Malformations
Cerebro-oculo-facio-skeletal syndrome
Jun. 01, 2020
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Metabolic model of the mitochondrion with fumarase deficiency
This model shows the metabolism of metabolites that increase ATP production during fumarase deficiency, which interrupts the citric acid cycle. The citric acid cycle is shown as a cyclical series of chemical reactions in the center of the diagram. The enclosing rounded rectangles depict the inner mitochondrial membrane, and external to that is the intermembrane space of the mitochondrion. The complexes of the electron transport chain are shown along the lower aspect of the inner mitochondrial membrane. Active pathways are shown in red and inactive pathways in black. (Source: Smith AC, Robinson AJ. A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle. BMC Syst Biol 2011;5:102. Creative Commons Attribution License.)