Genetic disorders in nutrient metabolism

Postgraduate course

Course description

Objectives and Content

There are a number of genetic disorders in the metabolism of several essential nutrients which molecular basis has been elucidated during the last years. Knowledge of the genetic basis can lead to increased understanding of a disease, better diagnosis and also to new treatment options. The course will focus on

  • genetic basis of disease / disorder
  • diagnosis
  • treatment options

The course will focus on two disorders: phenylketonuria (PKU) and familial hypercholesterolemia (FH). Students will know about the genetic basis of these disorders, learn about newborn screening and will gain an improved understanding of physiologic regulation of nutrient metabolism. They will also learn about diagnosis and treatment of both PKU and FH and the role of dietary treatment, approved drugs and other treatment options.

Learning Outcomes

Knowledge: The students..

  • Have advanced knowledge about cause, diagnosis and treatment of PKU and FH.
  • Have thorough knowledge about purpose and organization of newborn screening.

Skills : The students..

  • Can transfer knowledge for diagnoses of PKU and FH to other genetic disorders in nutrient metabolism.

General competence: The students..

  • Can analyze ethical problems associated with the diagnosis of genetic diseases and newborn screening.
  • Can discuss genetic disorders using PKU and FH as examples

Semester of Instruction

Spring, elective period is in January
Required Previous Knowledge
Bachelor's degree in human nutrition or minimum 3 years of medical studies.
Credit Reduction due to Course Overlap
This course overlaps with NUCLI362 and students will not get credits for both courses.
Access to the Course
Opptak til masterprogram i klinisk ernæring eller profesjonsstudiet medisin.
Teaching and learning methods
Compulsory Assignments and Attendance
Attendance of lectures (80 %)
Forms of Assessment
Written paper
Grading Scale
Approved/Not approved
Course Evaluation
Written evaluation