Inborn errors of metabolism

Inborn errors of metabolism may present with variable and often non-specific symptoms. They range from serious crises after birth with loss of consciousness, seizures, respiratory disorders, or organ failure, to physical and mental impairment. Early diagnosis and effective treatment are essential as they considerably improve the outcome.

For an effective and efficient diagnostic approach close collaboration between clinicians taking care of the patient and specialists in the metabolic lab is indispensable.

Selective metabolic investigations

This term means a broad range of analyses for metabolic disorders in a clinically symptomatic patient. According to the clinical presentation the physician taking care of the patient has to arrange a diagnostically conclusive panel of investigations.

In patients with acute symptoms samples taken during a crisis are most conclusive. In many cases a diagnosis can be established by a basic analytical programme.

In severely decompensated patients we offer emergency analyses also on weekends or holidays.

In the section cardinal symptoms we provide diagnostic strategies for metabolic investigations in patients with specific clinical problems and/or and laboratory constellations.