Medical Center University of Freiburg

Freiburg, Germany


Inherited metabolic disorders are a group of heterogeneous diseases caused by mutations in genes of carbohydrate, fatty acid and amino acid metabolism. Clinical symptoms are variable and often unspecific ranging from acute metabolic decompensations with vomiting, impaired vigilance, seizures and organ failure to chronic symptoms such as developmental retardation, failure to thrive, muscular symptoms or organomegaly. These disorders can present at any age, from the neonatal period to adulthood. Many inborn errors of metabolism have only been identified and characterized within the last decades.

The Freiburg Metabolic Centre provides high-level scientific expertise in the field of metabolic medicine and is dedicated to the diagnosis and treatment of children, adolescents and young adults with inherited metabolic disorders in an in- and outpatient setting. Our multidisciplinary team includes pediatricians, dieticians, geneticists, psychologists and social workers. Other specialists such as neurologists, endocrinologists, gastroenterologists, ophthalmologists and orthopedists can be involved at site depending on the individual requirements of the patients. Intensive care treatment is available. Patients are referred from all over Germany and from neighboring European countries for diagnostic as well as for therapeutic issues.

Some disorders can be diagnosed by newborn screening while the baby is still asymptomatic, whereas most patients are identified later in life due to clinical findings. Prenatal diagnosis is often possible, if an index case is known in the family. Treatment options of different metabolic diseases comprise dietary management, pharmacological treatment and enzyme replacement as well as organ transplantion. As a University Hospital with all medical specialties available we offer interdisciplinary care, tailored to the individual needs of each patient.

The Metabolic Center also includes a specialized biochemical and genetic laboratory providing a broad range of biochemical, enzymatic and genetic analyses:

The laboratory is closely connected to our Metabolic Research Unit focussing on the elucidation of the molecular mechanism by which genetic defects in patients lead to disease and the development of new therapies to improve quality of life and life expectancy. Scientists and clinicians work in close collaboration to bridge basic research and patient care, and to develop new methodologies for the early diagnosis of rare diseases. Our Metabolic Research Unit specializes on disorders of fatty acid oxidation, lysosomal diseases, glycogen storage diseases, vitamin B12 metabolism and organic acidurias.


Our area of diagnostic and clinical expertise comprises

– Amino acid disorders (i.e. maple syrup urine disease, phenylketonuria, tyrosinemia)
– Organic acidurias (i.e. propionic aciduria, isovaleric aciduria, methylmalonic aciduria, glutaric aciduria)
– Urea cycle defects
– Fatty acid oxidation disorders (i.e. MCAD, VLCAD, LCHAD, disorders of carnitine metabolism)
– Homocystinuria
– Methylation defects
– Disorders of carbohydrate metabolism (i.e. glycogen storage diseases, galactosemia, hereditary fructose intolerance)
– Peroxisomal disorders
– Lysosomal disorders
– Mitochondrial diseases
– Disorders of lipoprotein metabolism/ hyperlipidemias
– Congenital disorders of glycosylation
– Disorders of purin and pyrimidine metabolism
– Disorders of ketogenesis and ketolysis
– Disorders of creatine biosynthesis
– Disorders of cholesterol metabolism (i.e. Smith-Lemli-Opitz syndrome)
– Connective tissue diseases and skeletal dysplasias
– Other rare metabolic defects

Additionally, we offer diagnostic work-up in patients with suspected metabolic disorder and yet unclear diagnosis.

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    Medical Director of the Department of Pediatrics, Adolescent Medicine and Neonatology at the University Children’s Hospital in Freiburg, Germany

    Henk Blom

    Medical Center University of Freiburg