University Medical Center Utrecht (UMCU)


Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

In the CIMD-UMCU 2 metabolic expertise centers were endorsed by our ministry of Health Welfare and Sports:

  • Center for Fatty Acid Oxidation and ketone utilisation disorders
  • Center for vitamin B6 related disorders

Common themes for these national reference centers are:
Patient centered and multidisciplinary approach, sound transition procedures are in place
A close cooperation with national and international patient organisations
Participation in national and international guideline development
Strong international position in patient care and research
A biobank has been implemented

Our center of inherited metabolic diseases (CIMD- UMCU) offers offer state of the art care for patients with inherited metabolic diseases and is one of the 7 Dutch referral centers for newborns with an abnormal newborn screening result indicative for a metabolic disease in our country.

The CIMD-UMCU especially focusses on fatty acid oxidation and ketone uptake disorders and vitamin B6 related inborn errors of metabolism. In addition we aim to identify novel defects.
The fatty acid oxidation and ketone uptake disorders (FAO) center host a Dutch website with infromation for and from patients ( In the centers patients are seen by a multidisciplinary team and evaluated in a structured way yo be better able to determine outcome. Novel techniques are developed to be better able to follow-up on outcome

Furthermore the CIMD-UMCU, is the Dutch designated center for Stem cell transplantation for all metabolic disorders. The center has Joint Accreditation Committee ISCT-EBMT (JACIE) accreditation for autologous and allogeneic transplantation in adult and paediatric patients, collection of hematopoietic progenitor cells (marrow and apheresis) and cell processing.

The CIMD-UMCU also initiated and coordinate the Dutch Diagnosis Regsitry Metabolic Disorders ( a registry in which all Dutch metabolic centers participate. This registry contains data on patients diagnosed with an inherited metabolic disorder in the Netherlands and also on outcome of the newborn screening on metabolic disorders.


The CIMD-UMCU is one of the 7 Dutch referral centers for newborns with an abnormal newborn screening result indicative for a metabolic disease.
The CIMD-UMCU offers state of the art care for patients with inherited metabolic diseases. In 2000 a highly specialized day care center was developed which over the years gained broad experience with a multidisciplinary approach for complex patients. The multidisciplinary team consists of neurologists, a pediatricians for metabolic diseases, neuropsychologists, a child physiotherapists, cardiologists and ophthalmologists. This day care center offers a unique opportunity to evaluate patients in a standardized way, facilitating research and education.
The center is involved entire chain of care for newborn screening on fatty acid oxidation disorders. Based on studies performed by the center the Dutch newborn screening program jhas been adapted. Furthermore, national guidelines are developed and maintained to ensure that optimal follow-up and treatment after an initial newborn screening result indicative for a fatty acid oxidationd disorder is ensured.
The CIMD-UMCU closely collaborates with the genetic department in which the laboratory for metabolic diseases is embedded. Which guarantees state of the art facilities for research and opens the way to detecting novel metabolic defects and unravelling metabolic pathways.

  • An overview of the basic and enzyme metabolic tests that are being offered by the UMCU can be found here.

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    Gepke Visser

    UMCU, Utrecht, the Netherlands