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.

Today UKL-HD houses one of the largest metabolic centres worldwide including:

  • Outpatient and inpatient facilities for metabolic patients
  • Diagnostic (selective and newborn screening) and research laboratories

Key features:

  • 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
  • New analytical methods for newborn screening have been developed and implemented
  • Large scale targeted metabolome analysis is under development

UKL-HD has:

  • Established public-private partnerships for the postauthorization surveillance of orphan drugs
  • Coordinated national and international guideline groups
  • Is the first UEMS-certified European training centre for Pediatric Metabolic Medicine (PMM) according to the syllabus of the SSIEM
  • Organized several international training courses for more than 15 years
  • Coordinated large-scale network projects
  • Developed modular, interoperable patient registries

Specific treatments and interventions provided by the HCP

  • 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
Address

Im Neuenheimer Feld 430, 69120 Heidelberg, Germany

Website

Representatives

Stefan Kölker, MD

Stefan Kölker, MD

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

Thomas Opladen

University Hospital Heidelberg, Heidelberg, Germany

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