For over 40 years, our department has specialized in the diagnosis and treatment of congenital metabolic diseases. Our team, consisting of physicians specialized in pediatric metabolic diseases, specially trained nursing staff, dieticians, psychologists, and biochemists, treats more than 500 patients with all types of congenital metabolic diseases every year.

If they are not detected, congenital metabolic disorders 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 chronic diarrhea or physical and mental developmental disorders. Many of these diseases are easily 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 targeted treatment as soon as possible after birth and thus prevent disability and deaths. We have more information for parents in a PDF file (link to document in the respective language) for downloading.
• In the specialized metabolism laboratory, we run comprehensive diagnostic tests for congenital metabolic disorders if a disease is already suspected. Here, numerous diseases can also be diagnosed that are not covered in the newborn screening. In addition, suspicious results from the newborn screening are further clarified using various methods in the metabolism laboratory.
• The special strength of our laboratories is the interdisciplinary assessment of the findings together with the clinical symptoms by analytical (bio)chemists and metabolism specialists. This leads to recommendations for further testing and the initiation and monitoring of the specific treatment.
  
  

We treat patients suffering from

• disorders of amino acid metabolism (e.g., phenylketonuria, maple syrup urine disease, tyrosinemia type I),
• organic acidemia (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,
• and peroxisomal metabolic diseases.
  
  

Parents can be accommodated right on the 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.: ++49-6221-562302 or Email: georg.hoffmann@med.uni-heidelberg.de).

Our emergency hotline at 0049-6221-562311 is always available in cases of acute metabolic imbalance.

Sincerely,

Professor Dr. Georg F. Hoffmann

Medical Director of the Center for Child and Adolescent Medicine in Heidelberg