Inborn Errors of Metabolism (Part 2)

Inborn Errors of Metabolism (Part 2)

This podcast is the second in a three-part series on inborn errors of metabolism.  Part 1 can be found here, and Part 3 can be found here. This podcast reviews a wide range of small molecule diseases including amino and organic acidemias, urea cycle disorders, fatty acid oxidation defects, carbohydrate metabolism defects, mitochondrial oxidative phosphorylation disorders, purine and pyrimidine metabolism disorders and pyruvate metabolism disorders. This episode was written by Dr. Dustin Jacobson, a 2nd year pediatrics resident from the University of Toronto and Dr. Jonathan Kronick, a staff physician in the division of clinical and metabolic genetics at the University of Toronto. 

Clinical Presentation: