Expert on metabolic diseases
Given the rarity of many metabolic diseases, the complexity of diagnosis, follow-up and treatment, the presence of expert centers is desirable. Within the Netherlands, the Center for Lysosomal and Metabolic Diseases is one of the 6 centers fulfilling this role. Patients from the South West region of the Netherlands can come to us for all complex metabolic disorders. Depending on the disease, we will sometimes recommend a patient to go to another academic hospital that is extra specialized in that specific disorder. For a number of disorders, however, we are extra specialized and patients from all over the Netherlands can come to us.
Our center is officially recognized by the Ministry of Health, Welfare and Sport as an expert center for all metabolic disorders. On top of this, we have been recognized as an expert center for a number of specific disorders. These are the following disorders: Lysosomal storage disorders, neuronal ceroid lipofuscinosis, glycoproteinosis, disorders of lysosomal amino acid transport, mucopolysaccharidosis, urea cycle defects, organic acidurias, disorder of branched-chain amino acid metabolism, porphyria and Pompe disease. We have grouped the care of these disorders into specific subcenters.
The links below will take you to the specific subcenters of the Center for Lysosomal and Metabolic Diseases
