Mitochondrial Transport

Question 1

PDH def

Answer 1

PDH E1 mutation. prevents Pyruvate–>Acetyl-CoA. inc Pyruvate. gets reduced to Lactate high lactate and pyruvate levels in CSF. low PDH activity. LACTIC ACIDOSIS. reduces matrix import

Question 2

Methylmalonic Acidemia

Answer 2

methylmalonyl-CoA mutase def. Also Vit B12 def. B12 is cofactor for methylmalonyl-CoA mutase rxn.
methylmalonyl-CoA–>Succinyl CoA inhibited. (Succinyl CoA is CAC substrate). methylmalonyl-CoA buildup. inhibited Urea Cycle (protein catabolism and Urea synthesis) hyperammonemia.

liver transplant, low-protein diet