Pathophysiology
The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency usually results in sudden unexplained infant death (SIDS; 272120), a Reye-like syndrome, cardiomyopathy, and/or skeletal myopathy.
Read more about this topic: Mitochondrial Trifunctional Protein Deficiency