Course Description

The objective of this course is to provide an overview of the principles and practice of human biochemical genetics. Topics to be covered include amino acidopathies, organic acidoses, disorders of carbohydrate metabolism and lipid metabolism, lysosomal storage diseases, peroxisomal diseases, purine and pyrimidine disorders, and a variety of other inborn errors of metabolism. Students will research a topic and present the lectures. Several quizzes are planned, and student participation will be strongly encouraged.

Learner Outcomes

• Recognize the signs and symptoms of biochemical disorders of man.
• Understand the principles of diagnosing and treating inborn errors of metabolism based upon knowledge of human biochemical pathways.
• Prepare for managing patients with biochemical disorders and for taking the American Board of Medical Genetics examination in biochemical genetics.

Textbook Information

A textbook is required or recommended for this course.

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