Areas of expertise

Nanda Verhoeven-Duif is professor of Genetic Metabolic Diagnostics, head of the Metabolic Diagnostics laboratory of the department of Genetics and PI in the Center for Molecular Medicine at the UMC Utrecht. After studying chemistry (Utrecht University) she obtained a PhD at the VU University in the field of inborn errors of metabolism. Thereafter, she was trained and registered as a laboratory specialist in genetics (VKGL) and clinical chemistry (NVKC). She became an expert in the application of metabolomics in diagnostics and research. Currently, she is chair of the Vereniging Erfelijke Stofwisselingsziekten Nederland (ESN).

Research program / group

The Verhoeven group focuses on the elucidation of new genetic defects in human metabolism. By combining next generation sequencing and global (untargeted) metabolomics we identify the genetic variants that may underlie a clinical phenotype. Our pipeline has been designed to function in single patients since these new defects often concern (ultra)rare diseases. The identified variants are validated and tested by functional studies in patients’ cells or in genetically modified zebra fish, In these disease models, we study the effect of the mutation on the (organ specific) metabolome and elucidate the pathophysiology. In addition, we functionally characterize the encoded enzyme or transporter, thus providing all necessary knowledge for the definition of a new disorder. We focus on defects in vitamin B6 and amino acid metabolism and all results of our research are translated into clinical laboratory care.

The Utrecht Center for Medical Metabolomics offers metabolomics expertise to other research groups. This facility is supervised by prof. dr. Nanda Verhoeven-Duif and prof. Boudewijn Burgering.


Group members

  • Dr. Judith Jans - assistant professor
  • Marjolein Bosma - research technician
  • Rúben Ramos - PhD student
  • Lynne Rumping - PhD student
  • Hanneke Haijes - PhD student

Key publications

  • Peter M van Hasselt*, Sacha Ferdinandusse*, Glen R Monroe, Jos PN Ruiter, Marjolein Turkenburg, Maartje J Geerlings, Karen Duran, Magdalena Harakalova, Bert van der Zwaag, Ardeshir A. Monavari, Ilyas Okur, Mark J Sharrard, Maureen Cleary, Nuala O’Connell, Valerie Walker, M Estela Rubio-Gozalbo, Maaike C. de Vries, Gepke Visser, Roderick HJ Houwen, Jasper J van der Smagt, Nanda M Verhoeven-Duif, Ronald JA Wanders, Gijs van Haaften, Monocarboxylate Transporter Type 1 Deficiency and Ketone Utilization, NEJM, 2014
  • Albersen M, Bosma M, Luykx JJ, Jans JJ, Bakker SC, Strengman E, Borgdorff PJ, Keijzers PJ, van Dongen EP, Bruins P, de Sain-van der Velden MG, Visser G, Knoers NV, Ophoff RA, Verhoeven-Duif NM. Vitamin B-6 vitamers in human plasma and cerebrospinal fluid. Am J Clin Nutr. 2014 May 7;100(2):587-592.
  • Luykx JJ, Bakker SC, van Boxmeer L, Vinkers CH, Smeenk HE, Visser WF, Verhoeven-Duif NM, Strengman E, Buizer-Voskamp JE, de Groene L, van Dongen EP, Borgdorff P, Bruins P, de Koning TJ, Kahn RS, Ophoff RA. D-amino acid aberrations in cerebrospinal fluid and plasma of smokers. Neuropsychopharmacology. 2013 Sep;38(10):2019-26.
  • Albersen M, Bosma M, Knoers NV, de Ruiter BH, Diekman EF, de Ruijter J, Visser WF, de Koning TJ, Verhoeven-Duif NM. The intestine plays a substantial role in human vitamin B6 metabolism: a Caco-2 cell model. PLoS One. 2013;8(1):e54113.
  • Albersen M, Groenendaal F, van der Ham M, de Koning TJ, Bosma M, Visser WF, Visser G, de Sain-van der Velden MG, Verhoeven-Duif NM. Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants. Pediatrics. 2012 Jul;130(1):e191-8.


Link to full list of publications


More contact information

Visiting address:
UMC Utrecht, locatie WKZ
Lundlaan 6
The Netherlands



Detailed CV