Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Muenster University Hospital
Münster, GERMANY
The metabolic division at the Department of General Pediatrics, Muenster University Hospital offers diagnostics and treatment for the above named metabolic disorders on a tertiary care center level. Service is available on an outpatient in inpatient basis. The department is equipped with a full service metabolic laboratory and molecular genetic sequencing facilities. Whole Exome diagnostic testing is also available. The clinical team is supported by dietitians specialised in metabolic disorders. Muenster University Hospital provides nephro-dialysis, renal, bone marrow and liver transplantation and emergency ECMO. The two consultants of the metabolic team, Prof. Marquardt and Prof. Rutsch are leaders of independent research teams and participate in clinical trials and basic research. Current therapies for metabolic disorders including diet therapy and enzyme replacement therapy are well established.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
- Laboratory testing including molecular genetic testing for specifica metabolic diseases
- Consulting Service for specific rare metabolic disorders
- Emergency treatment and management of metabolic crises in children and adults with inborn errors of metabolism, incuding acute detoxification and nephro-dialysis
- Dietary management of inborn errors of metabolism (acute and chronic)
- Enzyme replacement therapy and substrate reduction therapy for certain lysosomal storage disorders, including Niemann-Pick type C and cystinosis
- Dietetic and chaperone therapy for PKU
- Genetic testing and therapy for patients with inborn errors of cobalamin absorption and metabolism
- Mannose therapy for certain CDG syndromes
- Bisphosphonate treatment for generalized arterial calcification of infancy
- Experimental therapies for patient with progeria
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