Copenhagen University Hospital, Rigshospitalet

Copenhagen, DENMARK


Centre for Inherited Metabolic Disease (CIMD) is part of Centre for Rare Diseases, which is appointed by the Danish National Health Authorities to be a center of excellence/reference centre for rare disorders. Centre for Inherited Metabolic Diseases, headed by Dr. Allan M Lund, brings together functions from the Department of Clinical Genetics (including specialised metabolic laboratory, molecular-genetic laboratory, chromosome/array-CGH laboratory, genetic counselling), the Department of Paediatrics (out-patient/in-patient facilities, dieticians, nurse specialists, psychologist and social-workers) and from the rest of the hospital (such as ergo- and physiotherapy, eye, ENT, orthopedic, neurology, endocrinology, hepatologic, transplantation, radiology). All of these entities are part of Copenhagen University Hospital, Rigshospitalet, which is an accredited tertiary referral hospital providing highly specialised medicine as organised by the National Health Authorities in the so called medical speciality plan (license to treat on a highly specialized level are given by the National Health Authorities on the grounds of an assessment using parameter such as rareness of disease, complexity of disease, degree of use of ressources (such as availability of special knowledge, special surgical, imaging, laboratory etc. facilities), need for collaboration/multidisciplinarity, and robustness of functions). Copenhagen University Hospital, Rigshospitalet, is an integrated children and adult hospital operating in all it’s functions on a state-of-the-art highly specialised medical level. Thus, state of the art in- and out-patient facilities for both children and adults are available and there is access to highly specialised treatment facilities in many departments from a number of medical specialities.

CIMD has highly specialised functions for more or less all metabolic disorders and covers all of Denmark, Greenland and the Faroe Islands with diagnostics, treatment and follow-up services for this group of patients. In CIMD the most frequent disorders are aminoacidopathies, organic acidurias, fat oxidation disorders and lysosomal disorders. Other disorders are mitochondrial disorders, neuromuscular diseases, neurotransmitter deficiencies, but for some of these disorders our input is mainly diagnostic, while the patients are co-cared for by the neurologists and neuropaediatricians with whom we have close collaboration.


CIMD provides (as most frequent examples) the following procedures (the treatments and investigations can be given on an out-patient or in-patient basis. The dominant activity is in the out-patient clinic).

Patient management

  • Dietary and vitamin treatment
  • Medicinal treatment like enzyme inhibitors, nitrogen scavengers, carnitine, enzyme replacement therapy, substrate reduction therapy, neurotransmitter substitution
  • Intensive care, transplantation (liver, haematopoietic stem cells, kidneys), hemodialysis
  • Physiotherapy, occupational therapy
  • Social advice. We have specialised social workers that liaise with local social workers to best support patients. Rehabilitation is done mostly in the patients’ local area on our advice. We are involved in palliative care but mostly via liaison with hospice.
  • Genetic counseling, prenatal diagnosis
  • A large list of clinical investigations done in different centers of the hospital, including eye-examination, ENT-examination, neurophysiology, X-ray/US/DXA/MRI/PET-imaging etc.
  • Apart from routine clinical treatments, we also do clinical trials with new medications and nutritional treatment in our clinical trial unit for rare diseases. This include both Danish patients and European patients. Clinical trials are conducted following GCP rules and in close collaboration with industry
  • Collaboration with patient organisations where we do teaching, counseling, co-arrange meetings, are on a help-line etc.
  • Collaboration with National Health authorities concerning how to organise treatment for rare diseases, issues involving the national neonatal screening panel etc.


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    Dr. Allan M. Lund

    Consultant Metabolic Paediatrician, Head, Center for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.