Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Sahlgrenska University Hospital and Sahlgrenska Academy at the University of Gothenburg
The Center for Inherited Metabolic Diseases at Sahlgrenska University Hospital (SCIMD) and Sahlgrenska Academy of University of Gothenburg is recognized both at the regional, national and international level as a clinical and research expert center for rare genetic metabolic diseases. Within the Center there is close collaboration between the Departments of Pediatrics, Pediatric Neurology, Medicine, Neurology, Pathology, Genetics and Clinical Chemistry with support from other departments such as Radiology, Cardiology, Pulmonology, Hematology, Surgery and Orthopedics. The center has since more than 50 years gradually developed its competence in healthcare and research.
The Children’s Hospital has a special unit for diagnostic investigations, in-ward places for children with metabolic diseases, ICU facilities when necessary and collaborates with Gothia Forum for clinical research and trials. Pediatricians dedicated to inborn errors of metabolism (IEM) and Child Neurologists dedicated to more organell-related diseases and neurodegenerative disorders have multidisciplinary teams that aid the local hospitals in the diagnostics and the disease-specific follow-up and treatment. There is a Regional Habilitation Centre with multidisciplinary teams serving patients with special needs. In addition, we have an Adult Metabolic Centre at the Department of Medicine and an Adult Mitochondria! Centre at the Department of Neurology of for the transition and dedicated clinical geneticists that help in the diagnosis and genetic counselling. We have specialized teams for the follow-up of lysosomal disorders, i.e. mucopolysaccharidoses with around 20 patients on enzyme therapy, treatment with ketogenic diet in about 20 patients with PDH-deficiency or GLUT1-deficiency, follow-up of positive tests from newborn screening as well as treatment of aminoacidopathies, organic acidemias, fatty acid oxidation disorders and for diagnosis and follow-up of mitochondria! disorders. The unit initiates and follows enzyme therapy on a regional level and provides haematopoetic stem cell treatment and organ transplants when indicated. The hospital provide anaesthesia in at-risk patients, i.e. patients with mucopolysaccharidoses. SCIM also includes sophisticated laboratory facilities, placed at the Department of Clinical Chemistry and Pathology, which assists in the diagnosis and follow-up of patients with IEM at a biochemical, morphological and genetic level.
SCIMD is part of a regional centre for rare diseases, and depending on the specific disorder we provide services for the Western Sweden health care region, to other parts of Sweden or sometimes to other Nordic countries. The centre works in close collaboration with Agrenska centre in Gothenburg, the National Coordinator for Rare Disorders, where we participate in disease-specific family weeks and also with the National Board of Health and Welfare in writing information material regarding rare metabolic diseases.
For an overview of the diagnostic testing on offer in this centre, please click here.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
We closely monitor all patients with inherited metabolic diseases in order to identify and prevent secondary complications such as disease-specific organ involvement. The center has developed yearly regional follow-up programs for these patients. The family and patient meet a multidisciplinary team dedicated to the specific disorders(for example medical doctor, physiotherapist, occupational therapist, dietician, psychologist, social worker and orthopedic surgeon). Biochemical investigations and specific investigations and operations requiring general anesthesia are done in relation to the same visits if possible. For the adult patients regular visits are scheduled with intervals depending on age and diagnosis – all from two appointments per year to one every second or third year.
The center offers Intensive care unit facilities, respiratory function assessments, invasive and non-invasive ventilation, swallowing and nutritional assessments, Percutaneous Endoscopic gastrostomy (PEG), full cardiac assessment, pacemaker/defibrillator implantation, chemotherapy and bone marrow transplantation.
The hospital is a center for organ transplantation. Patients with rare metabolic diseases are offered liver, heart or lung transplantation when needed.
The center has excellent service for a wide range of biochemical investigations from blood, urine and cerebrospinal fluid, invasive tissue investigations when appropriate, i.e. mitochondria! investigations, genetic investigations including next-generation sequencing, neuroimaging and neurophysiological investigations.
Genetic counselling is offered for all patients/families when an inherited metabolic disorder is diagnosed. Pre-symptomatic testing, prenatal diagnosis as well as preimplantatory genetic diagnosis is offered when appropriate.
The hospital offers 24/7 emergency care, and when a patient with an inherited metabolic disease seeks the staff on duty they may call members of the expert teams in order to provide the highest standard of treatment.
We provide diet-modification, ketogenic diet, co-factor therapy, substrate reduction therapy, enzyme therapy and symptomatic therapy according to international guidelines.