Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Metabolic Centre ULB-VUB
The centre was started more than 20 years ago. UZ VUB joined the Children Hospital Queen Fabiola in 1998. Expertise has been developed during these years in the field of the diagnosis and the treatment of metabolic disorders. The metabolic centre ULB-VUB is a referral centre for patients with inborn error of metabolism. More than 400 patients, children, adolescent and adults, are regularly followed nowadays.
Healthcare Provider has developed a specific expertise in the nutritional management of patients requiring restricted diet (protein or other). Special attention is paid to growth, micronutrients deficiency and phosphocalcium metabolism,…. Martine Robert, the dietician head, is an active member of the “European Nutritionist Expert Panel for PKU” (ENEP) and participated to several publications on these topics these 5 last years. Corinne De Laet is particularly involved in the diagnosis and the management of amino and organic acids related disorders.
A multidisciplinary lysosomal and mitochondrial clinic has been run for years taking care if the various aspects of these patients; this clinic is leaded by Linda De Meirleir.
Multidisciplinarity has been a rule in the centre for many years. The team is particularly involved in the neurodevelopment of the child and his integration in the living environment. Several educational tools were created to improve the understanding of the disease and the treatments; the multidisciplinar team is now involved in the development of therapeutic education. The actual challenge of the team is to guarantee a smooth transition of the patient from pediatric to adult care.
Our clinical guidelines are regularly reviewed and evidence-based treatments are implemented. International networking is frequently used to ensure quality and exchange of up-to-date clinical information. The contributors of the Healthcare Provider are members of the SSIEM, SFEIM, Metabolics.be, international or local societies for metabolic disorders
The centre is associated to 3 laboratories: newborn screening laboratory (45% of the yearly screening in Belgium), biochemichal laboratory and genetic laboratory. These laboratories develop new analysis and diagnostic tools (gene panels for mitrochondrial diseases or lysosomal disorders); they proposed adapted analysis on dried blood spot to improve the management of the patients (eg. NTBC, Tyr, Phe and succinylacetone). Also analysis on dried blood spot for lysosomal diseases and homocysteine is being developed. The centre collaborates to national and international trials, including an alpha mannosidosis enzyme replacement study, IT-San Fillipo study, a MCT8 trial, a mitochondrial network MRCN, neuropsychological functioning in patients with tyrosinemia type 1.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
- Adapted diets (restricted diet, ketogenic diet, low fat-MCT diet, tube feeding, …)
- Medication according to the diagnosis
- Use of orphan drugs (orfadin,carbaglu,.. .) and enzyme replacement therapy
- Transplantations: hematopoietic cell replacement, renal transplantation
- Management of the acute events; expertise and equipment available in intensive care unit (neonate and older patients)
- All specialized departments of a university hospital (cardio, ophtalmo, pneumo, surgery, …)
- Screening and treatment of the potential complications; the institutions offer full coverage of specialised cares and technical support including medical laboratories, imaging, pathology, neurophysiology and genetic investigations
- Rehabilitation team consisting of rehabilitation physician, physiotherapist, speech therapist
- Home ventilation
- Psychological and social support
- School advice when necessary
- Genetic councelling and prenatal diagnosis
- Transition outpatient clinic
- Collaboration with the gynecologists (pregnant women with IEM)
- Home care service (link between hospital and home services)
- Palliative care when necessary