Hannover Medical School

Hannover, GERMANY


The Medical School Hannover (MHH) is a tertiary care university clinic offering a comprehensive state of the art medical service with a broad scope. The hospital is co-financed by the government and health insurance companies. The unit for inborn errors of metabolism is part of the Department of Paediatrics. In-patients with an inborn error of metabolism are preferably shifted to our ward for metabolic disorders, neuropaediatrics and nephrology led by doctors experienced in inborn errors of metabolism and neuropaediatrics. If required patients go to the intensive care unit (ICU) where we act as consultants. We have an independent outpatient clinic where we have more than 1000 patient visits per annum, additionally we have about 400 in-patient visits per year. The outpatient unit for metabolic disorders is supported by a dedicated dietician. Core facilities like a metabolic laboratory which is part of the central laboratory, neuroradiology, ultrasonography etc. can be used. Newborn screening is performed in an associated (privately-owned) laboratory. There is a long-standing excellent cooperation between this laboratory and the metabolic unit. In our metabolic centre we have diagnostic labs which perform selective screening at metabolite level in different body fluids like blood, urine and cerebrospinal fluid. Enzymatic testing for respiratory chain enzymes and global fatty acid oxidation tests are performed in our lab as well. Genetic screening is performed in cooperation with our Department of Human Genetics and in the case of prenatal diagnosis with the Department of Gynaecology Further confirmatory testing is done in cooperation with many national and international partners.
Metabolic medicine is embedded in the general structure of the university clinic where organ dysfunction and transplantation as well as rare diseases are core topics to be further developed within the next years. Metabolic medicine is part of the ‘Centre for Rare Diseases Hannover’, ‘Muscle Centre Hannover’ and we are member of the ‘Centre for Systems Neurosciences Hannover’ with an integrated graduate school. Clinical and laboratory research funded by intra- and extramural sources is carried out by our group in our ‘Paediatric Research Centre’. We care for all patients with inborn errors of metabolism from birth until adulthood. Acute care for metabolic patients is offered by us with 24 hours coverage 7 days a week. Acute cases are primarily seen in our emergency department and shifted to specialised wards whenever required. Our institution runs a dedicated neonatal ICU and an ICU for older children. Adult patients can be shifted to an ICU run by our internal medicine/adul neurology service.


Being a tertiary university hospital center all necessary equipment and facilities essential to provide an overall excellent quality of patient care are in place and can be accessed 24 hours a day and seven days a week. We have easy access to a wide range of diagnostic techniques (including EEG, EMG, NLG). Ultrasound is available in our paediatric hospital and imaging of the brain (MRI, spectroscopy, CCT) is available in our Institute of Neuroradiology. We can use these diagnostic tools for out-patients as well as for in-patients, most of them as an emergency diagnostic option.

Diagnostic Testing

Rapid diagnostics are done in our own central lab or in collaboration and cooperation with the screening center in Hannover. We have a metabolic laboratory which can perform analyses like amino acids in plasma, organic acids, acylcarnitines in dried blood etc. routinely 5-6 days a week.

Diagnostic services at metabolite level are available including amino acids, organic acids, homocysteine, acylcarnitines, pyruvate, ketone bodies, purines, pyrimidines etc. Furthermore, we offer culturing of skin fibroblasts for diagnostic purposes. We can determine respiratory chain enzyme activities in different tissues and global fatty acid oxidation.

Genetic testing is available in cooperation with our Department of Human Genetics. Prenatal diagnostics are offered by our Department of Gynecology where we also hold multidisciplinary sessions.

An overview of the basic and enzyme metabolic tests that are being offered by the Hannover Medical School can be found here.

Therapeutic options

We offer a comprehensive range of therapeutic options like diet (supported by a dedicated metabolic dietician), pharmacological substrate reduction, chaperones, vitamin and cofactor supplementation, scavengers, enzyme replacement therapy (in the setting of day clinics), transplantation of bone marrow, liver, kidney and heart. Hepatocyte transplantation is an experimental option. Hemodialysis for elimination of toxic metabolic compounds is offered by our paediatric nephrologists. Outcome is assessed in cooperation with our psychologists using a multiprofessional approach. We have recently developed a modular training programme for patients with phenylketonuria and their families solicited by the German Federal Ministry of Health. We have a special research interest in energy metabolism and lysosomal storage diseases. We have coordinated a multinational cross-sectional survey for patients with tyrosinaemia I. Limited rehabilitation services are available for in-patients on our ward. Further rehabilitation is offered in cooperation with external rehabilitation clinics specialised in inborn errors of metabolism (e.g. Kölpinsee, Bad Kösen etc). Social care services are available for in-patients and to a limited extent for out-patients. Psychological support is offered whenever necessary.

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    Anibh Martin Das

    Hannover Medical School

    W. Büter

    Hannover Medical School