Clinical Enzymology

At the end of this course, students should be able to: 1. enumerate types of plasma enzymes; 2. define inborn errors of metabolism and discuss the various inborn errors of metabolism; 3. explain the sources and uses in interpretation of results obtained by analysis of plasma enzymes; 4. list non-pathologic causes of elevation of selected plasma enzymes; and 5. describe overview and consequences of the management of common inborn errors of metabolism.

Plasma enzymes, transaminases, alkaline and acid phosphatases, creatine kinase, lactic dehydrogenases and their uses in diagnosis and management of various diseases. Interpretation of enzyme levels in various diseases. Non-pathologic causes of elevation of selected plasma enzymes. Inborn errors of metabolism, definition, causes, consequences, and an overview of the management of common inborn errors of metabolism. Galactosaemia, lactose intolerance, albinism, aminoaciduria, phenylketonuria.