University Medical Center Mainz


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

The Villa Metabolica at the University Medical Center Mainz has a long tradition in taking care of patients with lysosomal storage disorders. As lysosomal storage disorders are general multiorgan diseases, the Villa Metabolica has a close and continuous cooperation with several different departments of the University Medical Center Mainz for diagnosing and treating these patients. Patients being treated in the Villa Metabolica come from whole Germany and different European countries.
The Villa Metabolica offers specialized and newly established treatment for patients with Lysosomal storage disorders, e.g. enzyme replacement therapy. The center is involved in several clinical trials for developing new treatment options for patients with lysosomal storage disorders, e.g. new enzyme replacement therapy for Fabry disease, alpha-mannosidosis, or new treatment options for patients with mucopolysaccharidoses. Furthermore, the Villa Metabolica takes part in different natural history and clinical outcome studies.

The Villa Metabolica has been involved in the development of different guidelines in the treatment of inborn errors of metabolism, especially lysosomal storage disorders. Scientifically, the center focuses on the development of new treatment options in lysosomal storage disorders. Furthermore, the center is involved in research in phenylketonuria and in nonketotic hyperglycinemia.
There is a long standing tradition of close cooperation with the patient support groups being active in the field of lysosomal storage disorders.


  • Acute care: Acute care for patients with all acute medical problems. There is a24hl7 day background seruice and different emergency rooms. Furthermore, there are different intensive care units for neonates, children and adolescents, and adults. ICU with long-standing experience in treatment of patients with IEOM and LSDs.
  • Ambulatory services: All patients with inborn errors of metabolism are treated in the outpatient clinic of the Villa Metabolica. As all these disease, especially the lysosomal storage disorders, are multiorgan diseases, the complete medical care for these patients is organized by the Villa Metabolica in cooperation with other departments. lnterdisciplinary outpatient clinic organized by the Villa Metabolica and other departments, i.e. the Dept. for Orthopedics, on a monthly basis.
  • Diagnostic services: Urinary screening for Iysosomal storage disorders; enzymatic and molecular analyses for lysosomal storage disorders; analysis of biomarkers; metabolite analyses for diagnosis and follow-up of IEOM (including amino acid analyses, organic acid analyses, etc.|.
  • lnterventional therapeutic services: The interventional therapies include enzyme replacement therapy intrathecal drug application, skin and liver biopsies, orthopedical, ophthalmological, otolaryngological, and neurosurgical operation procedures.
  • Rehabilitation services: This includes especially adaption and preparation of orthopedic advices.
  • Social care services: This includes help and counselling for patients and their families with progressive intellectual and neurological deterioration.
  • Pallative care services: Service for terminally ill patients on an ambulatory and in-patient setting. Supportive airway management, and polysomnography available.
  • Genetic diagnosis and counseling: Molecular diagnosis and genetic counseling of patients with lysosomal storage disorders areavailable in cooperation with the lnstitute for Human Genetics.
  • Other: Dietary advice and training, and nutritional supportive care for patients with inborn errors of metabollsm, e.g. phenylketonuria, nonketotic hyperglycinemia.

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    Julia B. Hennermann

    University Medical Center Mainz