Project details


Sweet and Sourish Aspects of Inherited Disorders of Mitochondrial Fatty Acid Oxidation: Studies in Mice and Men

laboratory animals glucose homeostasis Heel prick Screening

Dr. T.G.J. Derks

Nature of the research:
Research in the area of inherited metabolic diseases involves both human studies and laboratory experiments. For different human metabolic diseases small animal models are available. In this part of pediatrics, international collaborations are crucial in order to improve knowledge on rare diseases. Therefore, also students who wish to experience a research period in a foreign country are welcome to reflect.

Fields of study:

Background / introduction
Metabolic diseases are individually rare but rather prevalent as a group, especially disorders of mitochondrial fatty acid oxidation (mFAO). In the Netherlands recently population neonatal bloodspot screening has been expanded with several metabolic diseases, including 3 disorders of mFAO. Colleagues from the clinical department and laboratory of metabolic diseases in the UMCG played an important role in this process. Next to clinical studies on medium chain acyl-CoA dehydrogenase deficiency (the most common disorder of mFAO), fundamental studies have been performed on the relationship between disturbed mFAO and glucose metabolism.
Although some have been answered, new questions have been raized. We like to work together with enthousiastic (MD/PhD-)students. In general, our study objectives are related to patients with disturbed relationships between mFAO and glucose metabolism. Some of these patients are nowadays identified by population neonatal screening. Their clinical problems and our observations inspire our (laboratory) studies. Ultimately the studies will improve the outcome of our patients.
Research question / problem definition
To study the relationship between mFAO and glucose metabolism in several projects.
An individual work plan depends on the stage of the study of the students and their ambitions. It will include elements to ensure an inspiring introduction in the clinical care of children with inherited metabolic diseases. Our multiple international collaborations may facilitate a training period in a foreign country.
1. Derks TG, van Dijk TH, Grefhorst A, Rake JP, Smit GP, Havinga R, Kuipers F and Reijngoud DJ. Hepatology. 2008: 47(3); 1032-42.
2. Derks TG, Boer TS, van Assen A, Bos T, Ruiter J, Waterham HR, Niezen-Koning KE, Wanders RJA, Rondeel JMM, Loeber JG, ten Kate LP, Smit GPA and Reijngoud DJ. J Inherit Metab Dis. 2008: 31(1); 88-96.
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