Ghent University hospital


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

The Centre for Inborn Errors of Metabolism (CEMA) of the University Hospital of Ghent is a regional center for the diagnosis, treatment and care for patients with a metabolic disorder. The center has an agreement with the Belgian health insurance for the treatment of 183 inborn errors of metabolism (

Besides the clinical care of the patients with an OXPHOS defect which consists of providing easy acces to the outpatient clinic, regular follow-up at the neuromuscular center and availability of a good functioning emergency department and intensive care unit, the HCP offers also easy acces to diagnostic investigations in the Mitochondrial Laboratory at the Ghent University Hospital.

Since 1989, this laboratory has been functioning and has increased its diagnostic battery of tests which can be used for the diagnosis of OXPHOS defects. Techniques have been developed to facilitate the detection and identification of the OXPHOS defects. One of these techniques is the Blue Native Polyacrylamide Gel Electrophoresis (BN-PAGE) that can be used to visualize the OXPHOS defects and to detect subcomplexes of complex V which is a marker of either mitochondrial DNA alterations, or a defect in intramitochondrial transcription/translation. Also, a specific staining method for visualization of complex III activity in the BN-PAGE has been developed. New fluorescent staining techniques were also developed to identify the mosaic pattern that is pathognomonic for mitochondrial DNA defects. We have identified for the first time in humans pathogenic mutations in ATP12, IBA57 and NARS2. We also collaborated with research groups in other countries and are co-author of papers describing the first pathogenic mutations in four additional genes (SC02, AARS2, GTPBP1 and CARS2). We have been training several young researchers from Belgium and also from abroad (Slovenia, Egypt and South Africa). Recently, one of us (Rudy Van Coster) is part of a COST Action about iron/sulphur cluster biogenesis, which is an important pathway in the mitochondria directly linked to the OXPHOS.

Lysosomal and peroxisomal disorders
In-house diagnostic availability of enzymatic test make a quick diagnosis possible. For genetic diagnosis we work in close relationship with the University of Brussels.
Therapeutic options available are enzyme replacement therapy (ERT) and hematopoetic stem cell transplantation.
Specialised metabolic multidisciplinary consultations are organised for these patients.
For the patients who cannot be treated a paediatric palliative liaisons equipe is available.

Amino and organic acid related disorders
These diseases often present very acutely at a young age. These children are very often admitted to a neonatal/pediatric intensive care unit. On the intensive care wards there is a big awareness for metabolic diseases.


The defects of the oxidative phosphorylation usually have a very poor outcome. The younger the patient at the moment of the first symptoms, the worse the outcome of the disease. Only a small percentage of the patients can be succesfully treated, like for example the patients with isolated complex I deficiency due to a pathogenic mutation in the ACAD9 gene, by daily administration of riboflavine. In each newly diagnosed patient, daily administration of a coctail of vitamins is started to find out whether the patient is vitamin-responsive. Other possible treatments are daily administration of co-enzyme Q (as anti-oxidant), or administration of arginine (as NO donor). Overall, the effect of the treatments is disappointing in the great majority of the patients. For this reason, more research is needed to develop new treatment strategies. It is expected that in the future specific gene-treatments will be developed using for example AAV as vehicle to transfer the wild-type gene.

  • Prevention: treatment of patients isolated by newborn screening. Screening (genetic and enzymatic) of family members of affected patients.
  • Acute care: Neonatal (39 beds) and paediatric (14 beds) intensive care unit.
  • Ambulatory services: organised multidisciplinary consultations for metabolic diseases, lysosomal and peroxisomal storage disorders, metabolic diseases affecting the liver and mitochondrial diseases
  • Diagnostic services: metabolic lab, genetic department. Close relationship with other genetic departments in Belgium.
  • Interventional therapeutic services: Liver transplantation, heart transplantation, hematopoetic stem cell transplantation. Extracorporeal detoxification: liver dialysis, hemodialysis, ECMO.
  • Rehabilitation: fully equiped pediatric and adult rehabilitation centre
  • Paliative care services: a paediatric palliative liaisons equipe is available 24/7.

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    Rudy van Coster

    Ghent University hospital Belgium