For over 40 years, our department has specialized in the diagnosis and treatment of inherited metabolic diseases. Our team, consisting of physicians specialized in pediatric metabolic diseases, specially trained nursing staff, dieticians, psychologists, and (bio-)chemists, treats more than 500 patients with all types of congenital metabolic diseases every year.
Congenital metabolic disorders if not detected can lead to organ damage, physical or mental disability, and even death. The symptoms are varied and often not specific: They range from serious crises after birth with loss of consciousness, seizures, respiratory disorders, or organ failure, to physical and mental developmental disorders. Many of these diseases are treatable today, especially if they are diagnosed early enough.
With our cutting-edge technical equipment and our many years of experience in clinical treatment, we are able to conduct targeted diagnostic procedures. We have two laboratories in which we regularly use special biochemical methods that you will find in very few hospitals in the world.
- In the newborn screening laboratory, we examine blood samples from more than 130,000 newborns from Germany and abroad every year for congenital metabolic diseases and hormone disorders. Early diagnosis allows us to initiate specific treatment as soon as possible after birth and thus prevent disability and deaths. We have more information for parents in a PDF file for downloading.
- In the specialized metabolic laboratory, we run comprehensive diagnostic tests for patients with a suspected diagnosis of an inherited metabolic disorder. Numerous diseases can also be diagnosed that are not covered in the newborn screening. In addition, a broad spectrum of confirmatory tests are available for individuals in whom an inherited metabolic disorders was suspected by newborn screening.
- The laboratories are in a unique interdisciplinary setting enabling assessment and interpretation of the results in a team of experienced analytical (bio-)chemists and paediatric metabolic specialists. This leads to recommendations for further testing, initiation of the specific treatment, and long-term follow-up and therapy monitoring.
We treat patients suffering from
- disorders of amino acid metabolism (e.g., phenylketonuria, maple syrup urine disease, tyrosinemia type I),
- urea cycle disorders
- organic acidemias (e.g., glutaric acidemia type I, methylmalonic acidemia, propionic acidemia),
- carbohydrate metabolism disorders (glycogenosis, galactosemia, hereditary fructose intolerance),
- fatty acid oxidation and carnitine cycle defects (e.g., MCAD, VLCAD, and LCHAD deficiency),
- respiratory chain defects and other energy metabolism defects,
- cholesterol biosynthesis defects (e.g., Smith-Lemli-Opitz syndrome),
- creatine biosynthesis defects,
- neurotransmitter defects,
- purine/pyrimidine metabolism disorders,
- lysosomal storage diseases,
- peroxisomal metabolic diseases,
- protein glycosylation defects (so-called CDG syndromes),
- and disorders of vitamin synthesis and transport.
Parents can be accommodated on the metabolic ward in the patient’s room or in a parent room. There are also a number of private accommodations available in the vicinity.
You can contact us via the International Office or directly at the hospital director’s office (Tel.: ++49-6221-56 4100 or Email: email@example.com).
Our emergency hotline at 0049-6221-56 4002 / 4003 is always available in cases of acute metabolic imbalance.
Professor Dr. Georg F. Hoffmann
Chairman of the Center for Child and Adolescent Medicine in Heidelberg