Course Description
The genetic origins and biochemical basis of metabolic disorders, such as phenylketonuria and galactosemia, and their effects on patient health and well-being. This course will also address the methods of diagnosing these disorders, their prevalence among different populations, and their management, which often includes adjustments in dietary intake.
Additional Requirements for Graduate Students:
Graduate students will have different exams than the
undergraduates in order to document their advanced ability to
integrate and apply research-based information to inherited
metabolic disorders. Also, graduate students will be required
to do one of the following to further document their advanced
skills in critical thinking, appropriately evaluating the
current literature, and competency in applying this research-
based information to inherited metabolic disorders: (1) present
to the class a research-based overview of a selected topic
relevant to the course (with 5 to 10 references), or (2) write
a research-based paper that reviews a selected topic related
to inherited metabolic disorders (5 to 10 pages, with 5 to 10
references).
Athena Title
Inherited Metabolic Disorders
Undergraduate Prerequisite
NUTR 3100 or BCMB 3100 or BCMB 3100E or BCMB 3100H or BCMB 4010/6010 or permission of department
Graduate Prerequisite
NUTR 6400 or permission of department
Semester Course Offered
Offered spring
Grading System
A - F (Traditional)
Course Objectives
The course objectives are to prepare students from diverse backgrounds in nutrition, health sciences, and related fields to understand basic principles of inherited metabolic disorders, with emphasis on (i) their genetic origins and diagnostic procedures; (ii) the metabolic, biochemical, and medical consequences of these disorders; (iii) the prevalence of these disorders in different human populations; and (iv) the management of these disorders.
Topical Outline
I. Introduction to Inherited Metabolic Disorders A. Genetic Origins B. General Pathophysiology II. Diagnostic Procedures A. Newborn Screening B. Laboratory Testing and Methods C. Education III. Disorders of Amino Acid Metabolism A. Phenylketonuria B. Maple Syrup Urine Disease C. Disorders of Sulfur Amino Acid Metabolism IV. Disorders of Carbohydrate Metabolism A. Glycogen Storage Diseases B. Galactosemia C. Disorders of Glucose Transport V. Disorders of Lipid Metabolism A. Defects in Lipoprotein Metabolism B. Disorders of Cholesterol Synthesis C. Disorders of Mitochondrial Fatty Acid Oxidation
Syllabus