ABSTRACT
HMG-CoA lyase deficiency may be considered an organic acidemia. It is at the same time a classic disorder of fatty acid oxidation. HMG-CoA lyase is the last step in the formation of acetoacetate (Figure 46.2) and its product, 3-hydroxybutyrate. The products of the cleavage of HMG-CoA are acetoacetate and acetyl CoA. HMG-CoA is also of course a key intermediate in the synthesis of cholesterol (Chapter 87, p. 577). Its reduction to mevalonic acid represents a feedback control point in this pathway.
