CMMS is a specialized laboratory for inherited metabolic diseases.
Diagnostics involve the testing of metabolites in blood and urine, enzyme determinations, and the identification of mutations in leucocytes, muscle tissue and fibroblasts. We have a patient service center for testing and a cell culture laboratory to cultivate fibroblasts from skin biopsies.
Our physicians provide advice in connection with the examination and treatment of inherited metabolic diseases.
Most of our services are offered to patients on a nationwide basis.
CMMS includes three divisions; the metabolic laboratory, the PKU laboratory, and Porphyria Centre Sweden.
Metabolic Laboratory – Focused on the diagnosis of defects affecting amino acid, fatty acid, and carbohydrate metabolism, defects in intermediate metabolism, and mitochondrial, peroxisomal and lysosomal diseases.
PKU Laboratory – Responsible for the nationwide newborn screening (the PKU test). The screening currently includes 24 rare but treatable metabolic diseases. Each year some 70-80 children in Sweden are found to have one of the diseases that we are testing for. 
Information for parents about the PKU test. (123 kB)
Porphyria Centre Sweden – Diagnostics of porphyria diseases and other disorders of the heme biosynthesis pathway. We are a national center of excellence that provides advice on the treatment and follow-up of these diseases.