Due to its metabolic significance in energy and the production of substances needed as building blocks for other functions and reactions, disorders of the TCA cycle usually affect the entire body, with severe effects on organs and systems. These may include:
– Pyruvate Carboxylase Deficiency
– Phosphoenolpyruvate carboxykinase deficiency
– Pyruvate Dehydrogenase Complex Deficiency
– Dihydrolipoamide Dehydrogenase Deficiency
– 2-Ketoglutarate Dehydrogenase Complex Deficiency
– Fumerase Deficiency
– Succinate Dehydrogenase Deficiency
– Pyruvate Transporter Defect
Pyruvate Dehydrogenase (E) deficiency
– This is a rare neurodegenerative disorder (affecting both males and females) in which pyruvate is not converted to acetyl coA (needed for the TCA cycle) due to the absence or not functioning enzyme, Pyruvate Dehydrogenase. Instead the enzyme lactate dehydrogenase converts it to lactic acid.
– Pyruvate Dehydrogenase enzyme deficiency, thus causes several complications such as the condition lactic acidosis which severely affects the brain in particularly. Symptoms of the disease include developmental defects, decreased muscle tone (spasticity) and even death.
There is currently no proven treatment for this disease (Ghr.nlm.nih.gov 2014).
hr.nlm.nih.gov. 2012. Pyruvate dehydrogenase deficiency – Genetics Home Reference. [online] Available at: http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency [Accessed: 14 Mar 2014].
KILL BILL ANIMATED GIF. n.d. [image online] Available at: http://giphy.com/gifs/e2N0YGuh6koLu [Accessed: 16 Mar 2014].
Contributors: Thalia, Roi (editor)