Figure 2.

The Biochemistry of TFP and LCHAD Deficiencies. The last three reactions of the mitochondrial fatty acid β-oxidation spiral where the trifunctional protein catalyzes long chain fatty acids substrates. In isolated LCHAD deficiency, the pathway is blocked after the enoyl Co-A hydratase reaction and before the 3-hydroxyacyl Co-A dehydrogenase reaction, causing the accumulation of medium- and long-chain 3-hydroxy fatty acids and their metabolites. In complete TFP deficiency, the pathway is blocked after the acyl Co-A dehydrogenase reaction and before the enoyl Co-A dehydrogenase reaction causing the accumulation of straight chain fatty acids and their metabolites.