Metabolic Center Freiburg

Inherited metabolic disorders are rare, monogenic diseases caused by mutations in genes of carbohydrate, fatty acid and amino acid metabolism or important co-factors. To date, more than 1880 diseases have been identified. The number is constantly growing.

The Metabolic Center Freiburg has an outstanding expertise in the diagnosis and treatment of patients with inherited metabolic disorders on an inpatient and outpatient basis. The team is multidisciplinary and includes pediatricians, biochemists, dieticians, geneticists, psychologists and social workers. Specialists from other pediatric subspecialties can be involved at any time. Intensive care treatment is available. Our Center is certified by the European Board of Pediatrics.

Clinical symptoms may affect all organs of the body. The presentation ranges from acute, potentially life-threatening onset (e.g. metabolic crisis, hyperammonaemia…) to rather unspecific symptoms such as failure to thrive, developmental delay, cardiomyopathy or movement abnormalities. Inherited metabolic disorders can occur at any age.

Diagnosis can be made through newborn screening or clinical presentation. Treatment options comprise dietary modifications, pharmacological treatment, enzyme replacement and gene therapy. Sometimes organ transplantation is recommended.

Our center participates in a number of clinical treatment studies.

The Metabolic Center includes a specialized metabolic and diagnostic laboratory that offers a wide range of biochemical and enzymatic analyses, which we confirm in our genetic laboratory. The relevance of variants of unknown significance (VUS) can be examined vice versa.

We follow patients with known metabolic disorders and offer diagnostic work-up for patients with suspected metabolic disease and an unclear diagnosis.