KAROLINSKA UNIVERSITY HOSPITAL

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

The Karolinska University Hospital is one of the largest University Hospitals in Europe and together with Karolinska Institutet it forms the largest site for health care, research and medical education in Northern Europe.
We believe that patient care, research, innovation and education must all play equally strong roles in our effort to extend and enhance people’s lives. As a major teaching hospital we educate and train tomorrow’s medical specialists and health care professionals.
The Karolinska University Hospital has 1600 beds, 15800 employees and takes care of 1.6 million patient visits per year.
The Unit for Inborn Error of Metabolism (IEM) at the Karolinska University Hospital consists of several clinical multidisciplinary teams that provide diagnostics and clinical care for pediatric and adult patients with all types of IEM: the pediatric metabolic team, the pediatric neurometabolic team, the adult metabolic team, the adult neurometabolic team, the porhyria team, and the diagnostic laboratory for IEM (CMMS). The laboratory provides national newborn screening for 24 disorders, comprehensive biochemical diagnostic services, functional enzyme analysis, genetic investigations including Sanger sequencing and next generation sequencing/whole genome seq/NGS panels, seq of the entire mitochondrial genome, biochemical and molecular diagnostics for mitochondrial disorders.
The clinical teams are multidisciplinary and includes several health care professionals – physicians, nurses, psychologists, dieticians, social health care workers, geneticists/molecular biologists/clinical chemists/physiotherapists, speech therapists, and radiologists.
The Unit for IEM perform clinical and basic research on inborn errors of metabolism. We have developed WGS for fast and high throughput clinical use for more than 660 genes involved in IEM.
Diagnostic procedures are based on a careful evaluation of the phenotype (clinical and biochemical) and genetic testing. For patients whose phenotype is not yet associated with a known genotype we provide whole genome sequencing. We may thus provide families with diagnoses of novel clinical entities, molecular diagnoses, adequate genetic counselling and prenatal diagnosis.

We are a national referral centre for IEM and we support our collaborating teams and clinicians outside the hospital by giving diagnostic advice, by sharing information on our clinical routines, by giving lectures and providing the referring clinics with detailed instructions for patient care and recommended follow-up and diagnostic procedures. In addition, we provide care and consultations for patients with IEM 24/7 via a national telephone consultation line.