Inborn errors of metabolism (IEM) form a large class of genetic diseases. In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds.
All IEM are orphan diseases. They can present in very different ways and are sometimes also very difficult to diagnose.
In Switzerland, health care professionals involved in the care of patients who may suffer from an IEM or who have been diagnosed with an IEM have created the Swiss Group for Inborn Errors of Metabolism (SGIEM), in order to cooperate and coordinate their efforts countrywide, to ensure the best possible care for affected patients.
This website is intended for patients and professionals seeking practical information on where to get a specialized consultation, find out about patient associations and have access to scientific literature.