Universitätsklinikum Heidelberg

Heidelberg, GERMANY

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

University Hospital Heidelberg (UKL-HD), Centre for Pediatric and Adolescent Medicine, has a long-lasting history in the study of rare inherited metabolic diseases (IMDs) starting more than 50 years ago with Prof. Bickel’s seminal studies on the treatment of phenylketonuria and the promotion of newborn screening. This clinical and research focus has been sustained and extended. Today UKL-HD houses one of the largest metabolic centres worldwide including outpatient and inpatient facilities for metabolic patients as well as diagnostic (selective and newborn screening) and research laboratories. Transition and adult care for IMD has been established in collaboration with the Department of Internal Medicine. Trans-sectoral, IT-supported care concepts for patients with rare diseases including IMDs are under development. The diagnostic laboratories provide diagnostic services for all known IMDs that are detectable by metabolite analysis. Furthermore, new analytical methods for newborn screening have been developed and implemented into the current newborn screening programme; large scale targeted metabolome analysis is under development.
To harmonize care for patients with rare IMD, UKL-HD has coordinated national and international guideline groups. UKL-HD is the first UEMS-certified European training centre for Pediatric Metabolic Medicine (PMM) according to the syllabus of the SSIEM. It has organised several international training courses for more than 15 years.
It has coordinated large-scale network projects such as the German collaborative study of children with phenylketonuria, the German national network on IMDs identifiable by newborn screening, the long-term outcome evaluation of newborn screening in South-West Germany, and the EU-funded network projects E-IMD. It has developed modular, interoperable patient registries within the projects E-IMD, E-HOD, and iNTD currently clustering more than 50 IMDs using the same IT solution. Public private partnerships for the postauthorization surveillance of orphan drugs have been established in collaboration with the marketing authorisation holders and the European Medicines Agency to improve drug safety.
By its long-lasting experience in the above described areas, the stepwise improvement of infrastructure, the development of a multi-disciplinary team and clinical pathways, and research facilities UKL-HD will provide an important contribution to care for and empowerment of patients with IMD with MetabERN.


– Dietary treatment (low protein, low phenylalanine, low tyrosine, low leucine, low lysine, low methionine, galactose-free, low fat, and ketogenic diet)
– Cofactor supplementation (cobalamin, pyridoxin, riboflavin, thiamin, biotin, folic acid, tetrahydrobiopterin, carglumic acid, coenzyme Q10)
– Carnitine supplementation
– Ammonia detoxification (nitrogen scavengers)
– Amino acid supplementation (arginine, citrulline, ornithine, branched-chain amino acids)
– Substrate reduction therapy (cystadane, NTBC, miglustat)
– Enzyme replacement therapy
– Stimulation of posttranslational protein glycosylation (mannose, fucose, galactose)
– Pharmacotherapy of movement disorders (anticholinergics, L-DOPA and other precursor treatment, etc)
– Organ transplantation (liver, kidney)
– Bone marrow transplantation
– Hemotopoetic stem cell therapy
– Hemodialysis, hemofiltration, peritoneal dialysis
– Intensive care during metabolic emergencies provided by NICU and PICU
– Physiotherapy, occupational therapy, speech therapy


Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Germany

Thomas Opladen

University Hospital Heidelberg, Heidelberg, Germany