Metabolic disorders
Course infoSchedule
Course moduleMED-MM2TR
Credits (ECTS)2
CategoryMA (Master)
Language of instructionEnglish
Offered byRadboud University; Faculty of Medical Sciences; Molecular Mechanisms of Disease;
Contactperson for the course
dr. L. de Boer
Other course modules lecturer
dr. L. de Boer
Other course modules lecturer
Academic year2017
Starting block
Course mode
Registration using OSIRISYes
Course open to students from other facultiesNo
Waiting listNo
Placement procedure-

After completion of the course, you are familiar with the clinical appearance of defects in metabolism (hormonal and energy), glycosylation and salt and water regulation. In this course you focus on the biomedical research towards the molecular mechanisms, diagnosis, treatment and prevention of these diseases. You will gain knowledge of the various diagnostics for disease classification and of the options for treatment.

Specifically, after completion of the course you will

  • Understand the clinical consequences of molecular defects in the metabolism and transport of small molecules.
  • Be aware of current possibilities and developments in the field of diagnosis, treatment and prevention of these diseases.
  • Be able to use the knowledge about the link from molecular mechanisms of energy metabolism and transport to disease in their future research in the biomedical field.

This course focuses on the translational research part of MMD Theme 2: Metabolism, Transport and Motion/Metabolic Disorders.The four course days are scheduled on 9-14 December 2016. The written test will take place on Friday 16 December. Together with the preceding course "Metabolism, Transport and Motion" (MM2CF) it forms the Module "Metabolism, Transport and Motion/Metabolic Disorders ".

In the course Metabolic Disorders the molecular aspects of certain disorders of energy metabolism (e.g. mitochondrial disorders), adrenal disease and transport (e.g. disorders of renal water transport) will be covered from bench to bedside. There will be special emphasis on the clinical and fundamental aspects of these diseases, the burden for the (often young) patients, and the latest developments in diagnosis, therapies and prevention (e.g. by special diets or enzyme replacement therapy). Students will learn to appreciate the value of a multidisciplinary approach, linking genetic defects to their phenotypic consequences and to a better understanding and treatment of these diseases.

This  course is a unique bloc designed for master students in molecular sciences. It is of utmost interest that they get a view regarding the importance and relevance of their knowledge in the translational aspect, and get familiar with different inherited disorders, and the impact of these disorders on the quality of life. During a four day course, the students learn about disorders, which have been unsolved in the past, or cannot yet be treated The students meet several patients, including children suffering from different inborn errors or kidney disease. The master students participate in the challenge of trying to solve the underlying etiology, to approach therapy, to learn about developing medicine and designing a diet in the children, participate in actual patient counseling and have a chance to talk to parents and doctors, following the patients with a debilitating, untreatable disease. Due to the involvement of parents and patients it is highly appreciated if the students honour them  with their continuous presence and activity in these few days of the MMD course .


• Assignments and literature are the main materials for this course (See course manual on Blackboard).
• Core textbook: Lodish: Molecular Cell Biology, 7th edition; specifically chapters 5, 10, 11, 12, 17.

Additional comments
Registration for resits to be done in Osiris Student

Energy and redox metabolism, water, drug and metabolite transport, bioinformatics of metabolic pathways, metabolic disease, adrenal disorders. This is a core course of the Master's programme Molecular Mechanisms of Disease.

1st year MSc MMD

Test information
The assessment will be carried out on the basis of an written test with essay questions. The written test must be graded 6.0 or higher to pass the course.In case the written test is assessed 5.0 or lower, students must write the resit examination (scheduled Friday May, 5 2017).

The course "MM2CF: Metabolism, Transport and Motion" is required for this course.

Test weight1
OpportunitiesBlock 4, Block 4