Sometimes, health issues don’t follow a clear pattern. A child might experience muscle pain and liver problems. Or struggle to grow while showing signs of heart failure. When more than one organ system is affected, we look deeper – often at the body’s metabolism.

The Metabolic Center of Freiburg University Children’s Hospital, specializes in diagnosing and treating inborn errors of metabolism. These are rare, but not uncommon, conditions that affect how the body processes nutrients like proteins, fats, and sugars.

They’re more frequent than most realize – impacting about 1 in every 500 newborns. To date, more than 1,880 different conditions have been identified, with new ones still being discovered. Many of these diseases have only been recognized and understood in recent decades.

Inborn metabolic diseases can present in many different ways. They may cause developmental delays, growth failure, liver or kidney dysfunction, vision problems, heart symptoms, metabolic crises, or persistent fatigue. Some children show signs early in life. Others are diagnosed in adolescence or even adulthood.

Expert Care, All in One Place

Our multidisciplinary team includes pediatricians, geneticists, dietitians, psychologists, and biochemists – working together to offer comprehensive inpatient and outpatient care. Depending on the patient’s needs, we also involve other pediatric specialists such as neurologists, endocrinologists, gastroenterologists, ophthalmologists, and orthopedists. Intensive care is available when needed.

We offer:

• Advanced biochemical and genetic testing
• Diagnostic inpatient stays of 2-4 days
• Personalized treatment plans based on the most current medical research

We provide care for both patients with a newly suspected diagnosis and those with established metabolic conditions, covering a broad spectrum of disorders – from phenylketonuria and mitochondrial diseases to fatty acid oxidation defects, urea cycle disorders, and disorders of vitamin B12 metabolism.

Connected to the Future of Care

As part of the European MetabERN Network, we stay at the forefront of research, innovation, and collaboration in metabolic medicine across Europe.

When symptoms are confusing and answers are hard to find – we’re here to help make sense of it.