Oslo, Norway


Oslo University Hospital (https://oslo-universitetssykehus.no/oslo-university-hospital) is Scandinavia’s largest hospital and is in charge of specialized services for a number of national and multiregional assignments, including several national centres of competence and treatments. OUH consists of 14 medical divisions and more than 20.000 employees carry out more than 1.2 million patient treatments each year. The hospital promotes extensive research and education.

Oslo University Hospital is a referral hospital for the majority of children and adults with inborn errors of metabolism in Norway and includes the following specialized services:

  • Center of competence for congenital metabolic disease includes clinical expertise in the treatment and  medical follow-up of children and adults with congenital metabolic diseases at the Division of Paediatric and Adolescent Medicine https://oslo-universitetssykehus.no/fag-og-forskning/nasjonale-og-regionale-tjenester/nasjonal-kompetansetjeneste-for-medfodte-stoffskiftesykdommer
  • A National Centre for Rare Disorders and Frambu (http://www.sjeldnediagnoser.no) : Its main purpose is to ensure that patients with rare disorders receive holistic and individually based care and support. The organisations serve patients and their families with different metabolic diseases from all parts of Norway. The overall purpose is to establish better quality of services through empowering patients and strengthening advocacy, making rare disorders more visible in today’s society ensuring easier access to services and strengthening networks and collaborations of professionals. The centers have achieved great expertise in general on “how to cope with a rare disorder” both for the patients and the caretakers involved.


Access to specific treatment and interventions:

  • Highly specialized Intensive Care Units for newborns, children and adults: Emergency medical treatment for patient with metabolic crises, advanced ventilator management, hypothermia treatment, dialysis, Ectracorporeal Membrane Oxygenation Treatment (ECMO).
  • Paediatric  and Adult  Metabolic and Neurological Departments/ day -care facilities providing care,treatment and follow-up for  most congenital  metabolic diseases  in general including neurodegenerative diseases, neurotransmitter deficiencies and lysosomal disorders. Involves intrathecal neurotransmitter treatment/DBS adjustments,  enzyme replacement therapy approved for Gaucher, Fabry, Pompe, mucopolysaccharidoses (type I, II, IV and VI  ). Substrate reduction therapy: EMA approved for Gaucher and Niemann Pick type C. Intrathecal treatment for Niemann Pick type C (experimental). Local injection treatment for spasticity with botulinum toxin.
  • Highly specialized dietician  service for children and adults with metabolic diseases, including clinics for eating and swallowing disabilities
  • Rehabilitation clinics: Patients with a disability (including metabolic disorders) are referred to  habilitation service for interdisciplinary follow-up (e.g speech and language therapists, psychologist, neuropsychological testing, neurologist etc), dental services for rare diseases (http://www.tako.no)
  • Social care service: Social health care workers in collaboration with child psychiatrist/psychologist and personnel at the Centre for Rare Diseases: Facilitates follow-up and support patients and caretakers with their economical and social rights and provides information to the local community (day-care, school, local health services).
  • Advanced Domestic Hospital service (treatment at home) for children with chronic illness including palliative care.


Access to specialized diagnostics and interventions:

  • Genetic laboratory  and  clinical genetic counseling including: Whole exome sequencing service, gene panels including mitochondrial diseases and metabolic diseases (https://oslo-universitetssykehus.no/avdelinger/klinikk-for-laboratoriemedisin/avdeling-for-medisinsk-genetikk/enhet-for-hts-diagnostikk-genpaneler)
  • Newborn biochemical screening including 2.tier next generation sequencing  in blood spot samples for 20 metabolic diseases with turn-around time 2-5 working days.
  • Specialized metabolic diagnostic laboratory  for screening of metabolites in blood/urine/cerebrospinal fluid, enzyme diagnostics and DNA analysis
  • Neurosugery: Cervical spine decompression, lumbar spine decompression and stabilization, ventricular peritoneal shunts, stereotactic surgery, intrathecal baclophen pumps, deep brain stimulation devices (DBS), surgery for epilepsy.
  • Specialized orthopedic services available for musculoskeletal treatment, carpal tunnel decompression syndrome, corsetts, orthoses, insoles, braces, splints and movement and gait clinics
  • Neuroradiology (CT, MRI/MRS, PET), neurophysiology (EEG, EMG and neurography, VEP, SEP, AEP, BERA), contrast swallow studies.
  • Transplantation centres: Bone marrow/stemcell transplantations (MPS-1, X-ALD ), heart,  liver, pancreas and  kidney transplantation
  • Department of child and adult psychiatry, neuropsychological and behavioral testing.
  • Specialized medical and surgical departments for children and adults: ophtalmology, ear-nose-throat, cardiology, nephrology, urology, neurology, lung,  liver and kidney (including biopsy facilities) and department for Pathology studies.

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    Oslo University Hospital, Oslo Norway


    Oslo University Hospital, Oslo Norway