Ketone bodies are produced in the liver as an important energy source, especially in the shortage of glucose, and are incorporated to extrahepatic tissues and used as an energy. Defects of ketone body synthesis result in severe and early fasting hypoglycemia and defects of ketone body utilization result in intermittent ketoacidosis. These defects are called as “inborn errors of ketone body metabolism”
Defects in Ketogeneisis
- Mitochondrial HMG-CoA synthase deficiency
- HMG-COA lyase deficiency
Defects in ketolysis
- β-ketothiolase deficiency
- Succinyl-CoA:3-ketoacid CoA transferase deficiency
We perform clinical, enzymatic , molecular diagnosis of these disorders and their treatments and related studies of ketone body metabolism.