Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Cliniques universitaires St Luc (Bruxelles)-Université catholique de Louvain
More than 15 years ago, we initiated a ultidisciplinary consultation, located in Cliniques universitaires Saint-Luc (Université catholique de Louvain) for the care of patients with IEMs. This medical activity is financed by a specific convention of National health Insurance (RIZIV-INAMI).
Patients are followed by a special multi-disciplinary team in the Cliniques universitaires Saint-Luc.
The multi-disciplinary team is led by Prof. MC Nassogne. Specific interest concerns amino-acids and urea cycle disorders and IEMs with neurological involement : psychomotor regression, intellectual impairment or epilepsy.
Other inborn erros of metabolism are also followed, especially several patients with fatty acid oxidation defects and galactosemia.
A special interest concerns also inborn errors of purines and pyrimidines metabolism with Prof. MF Vincent.
For many years, there is a liver transplant activity in our institution. Many patients with inborn errors of metabolism involving the liver are also followed and liver transplant has been performed several times. Prof. E Sokal is strongly involved in this activity and works together with Prof. MC Nassogne.
Another point concerns neontal screening. This activity is monitored by Prof. MF Vincent and Ms S Marie (PhD).
Around 20000 guthrie cards are analysed each year in the lab (amino-acids, acylcarnitines, galactose for inborn errors of metabolism).
Fundamental research is developped since several years by Prof E. van schaftingen and Dr J. Dewulf.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
IEMs are followed by a special multi-disciplinary team (including a.o. a pediatric neurologist, a pediatrician, a dietetician, apsychologist and a social worker) in the Cliniques universitaires Saint-Luc. This medical activity is financed by a specific convention of Medicare health insurance (RIZIV-INAMI).
Patients are followed regularly by multidisciplinary group with at least one contact every 3 months for patients aged less than 10 years, every 6 months for patients aged between 10 and 16 years and every year for adults. The team can be contacted round the clock. The multi-disciplinary team is led by Prof. MC Nassogne. Specific interest concerns amino-acids and urea cycle disorders and neuromtabolic diseases.
This team is included in an university hospital and works together with several other teams :
Prenatal and familial screening and advice.
Acute care is provided by the NICU or the PICU with specific treatments like hemofiltration and multidisciplinary work including all the pediatric subspecialities.
For many years, there is a strong liver transplant activity in our institution. Many patients with inborn errors of metabolism involving the liver are also followed and liver transplant has been several times performed.
This team is attached to the pediatric neurology department with a specific rehabilitation unit.
Biochemical investigations are also available with the laboratory of Prof MF Vincent : amino-acids in plasma, CSF and urines, organic acids in urines, acylcarnitines in blood and plasma, galactose and galactose-1-P levels and galactose enzymes in blood, purines and pyrimidines analyses, oligosaccharides and glycosaminoglycans in urines, very long chain fatty acids, …)
Another point concerns a strong multidisciplinary psychosocial care and also palliative care with nurses and respite home.