Erasmus MC, University Medical Center, Rotterdam


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

Erasmus MC, University Medical Center, Rotterdam, Netherland
Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

Our center is a reference center for the whole spectrum of metabolic diseases (catchment area of 5 million):
– Patients are treated within a multidisciplinary team consisting of physicians (e.g. pediatricians and internists specialized in metabolic diseases, (child)neurologists, rehabilitation physician, clinical geneticists, cardiologists, pulmonologist, (orthopedic/neuro) surgeons), (research) nurses, physiotherapists, dieticians, (neuro)psychologists and social workers.
– 24 hr/day and 7 days/week emergency treatment and on call services for children and adults with a metabolic disorder.
– In house laboratories with broad diagnostic possibilities for the spectrum of metabolic diseases. These include: metabolite analysis (e.g. acylcarnitines, amino acids, organic acids, glycosaminoglycans, oligosaccharides, tetrasaccharides, polyols, purines/pyrimides, bile acids, phytanic/pristanic acid, very long chain fatty acids, creatine/guanidinoacetate, sialic acid, porphyrines), enzyme assays (e.g. all lysososomal diseases, glycogenoses, disorders of glucose/galactose metabolism, oxidative phosphorylation defects, urea cycle defects, disorders of purine/pyrimidine metabolism, porphyrias) and molecular analysis for many disorders, NGS, WES .
Our center has been accredited as a national center of expertise for the following conditions:
– Pompe’s disease: exclusively providing enzyme replacement therapy (which was developed at our center) for all patients in the Netherlands. Involved in clinical trials evaluating new treatments for Pompe’s disease. Conducting clinical and translational research aimed at the development of new therapies including gene therapy and stem cell therapy for Pompe’s disease. Curator of the international Pompe mutation database. Co-founder and active
member of the European Pompe Consortium (EPOC).
– (Other) lysosomal diseases: providing enzyme replacement therapy for mucopolysacchardidoses type I and nationwide for type II and VI in the Netherlands. Involved in clinical trials evaluating new treatments for mucopolysaccharidosis type VI . Conducting clinical and translational research aimed at developing new therapeutic options for mucopolysaccharidoses. National registries for patients with neuronal ceroid lipofuscinosis type 1 and 2 and mucolipidoses.
– Porphyrias: the only reference center for porphyrias in the Netherlands. Involved in the clinical trials and implementation of the first treatment for erythropoietic protoporphyria (EPP). Active member of the European Porphyria Network, EPNET.
– Urea cycle defects and organic acidurias: individualized emergency protocol for each patient. Involved in national and international development and implementation of clinical guidelines and care paths. Active member of the European network for Intoxication type Metabolic Diseases (EIMD).


  • Prevention: referal center for metabolic conditions included in the national newborn screening program (currently 14 metabolic diorders). Genetic counseling and prenatal diagnostics for metabolic diseases.
  • Acute care: 24 hr per day, 7 days per week emergency treatment and on call services for children and adults with metabolic diseases. Neonatal, pediatric and adult Intensive Care facilities including ECMO and dialysis.
    Personalized emergency protocols for patients at risk for metabolic derangement. Emergency diagnostics (metabolite analysis and certain enzyme assays; turn-over time < 24 hrs) if needed.
  • Ambulatory services: multidisciplinary outpatient clinics focussing on specific patients groups (e.g. Pompe’s disease, lysosomal storage diseases, porphyrias, defects of intermediary metabolism, dyslipidemias).
  • Interventional therapeutic services: providing enzyme replacement therapy (nationwide for Pompe’s disease, MPS II and VI; MPS I) homebased and in hospital, surgical interventions (e.g. general surgical procedures (port-a-cath, PEG, herniotomy), orthopedic procedures, neurosurgical procedures). Treatment of acute porhyria attacks with heme arginate in a multicenter setting with supportive care. Treatment of erythropoietic protoporphyria with the EMA-Pass Protocol for treatment with Afamelanatide (Scenesse), a recently approved drug with marketing authorisation.
  • Rehabilitation services: a rehabilitation physician is part of the multidisciplinary team. Patients on enzyme replacement therapy are followed-up according to standardized protocols which includes standardized functional testing by physiotherapists.
  • Social care services: as all lysosomal diseases, and many other metabolic diseases, are complex in nature requiring a multidisciplinary approach, social workers are part of the multidisciplinary team; biweekly multidisciplinary meetings are organized to discuss individual patients. Neuropsycholigists provide testing and advise on proper education.
  • Palliative care services: palliative care teams for both pediatric and adult patients are present at our center to provide guidance and advise to primary caregivers and general practioners.
  • Transition: transition of patients from pediatric to adult health care services according to specified protocols.

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    Ans van der Ploeg

    Center for Lysosomal and Metabolic Diseases, Erasmus MC University Hospital Rotterdam, The Netherlands