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 centre for diagnosing, treating, and caring for patients with metabolic disorders. The centre has an agreement with the Belgian health insurance for the treatment of 183 inborn errors of metabolism (http://www.riziv.fgov.be/SiteCollectionDocuments/overeenkomst_metabole_ziekten_wijzigingsclausule.pdf)

Besides the clinical care of the patients with an OXPHOS defect which consists of providing easy access to the outpatient clinic, regular follow-up at the neuromuscular centre and availability of a good functioning emergency department and intensive care unit, the HCP also offers easy access 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 that can be used to diagnose OXPHOS defects. Techniques have been developed to facilitate the detection and identification of OXPHOS defects. One of these techniques is the Blue Native Polyacrylamide Gel Electrophoresis (BN-PAGE) that can visualize the OXPHOS defects and 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 pathognomonic mosaic pattern 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-authors of papers describing the first pathogenic mutations in four additional genes (SC02, AARS2, GTPBP1 and CARS2). We have trained several young researchers from Belgium and abroad (Slovenia, Egypt and South Africa). Recently, one of us (Rudy Van Coster) is part of a COST Action about iron/sulphur cluster biogenesis, an important pathway in the mitochondria directly linked to the OXPHOS.

Lysosomal and peroxisomal disorders
In-house diagnostic availability of enzymatic tests makes a quick diagnosis possible. For genetic diagnosis, we work in a close relationship with the University of Brussels.
Therapeutic options available are enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation.
Specialised metabolic multidisciplinary consultations are organised for these patients.
For the patients who cannot be treated, paediatric palliative liaison equipment 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. In intensive care wards, there is a big awareness of metabolic diseases.