Clinical Chemistry, Vol 21, 63-66, Copyright © 1975 by the American Association for Clinical Chemistry

Inborn Errors of Metabolism— A Challenge to the Clinical Chemist

¹ Institute of Clinical Biochemistry, Rikshospitalet, University of Oslo, Oslo 1, Norway.

No country has as yet established satisfactory plans for combating inborn errors of metabolism. The problem is great and very complex. Some 150-200 inborn errors of metabolism are known at present, but it is likely that the types so far described only represent a fraction of those actually occurring. Until now the field of inborn errors has been dominated by pediatricians, geneticists, and biochemists. Based on his knowledge both in medicine and in biochemistry, the clinical chemist should also play an important role, and consider the diagnostic aspects of this field to be part of his responsibility. In addition, he should also take part in the further work that often is necessary to elucidate these "biochemical" disorders. The bridging of benchside and bedside medicine should be looked upon as one of the main tasks of clinical chemistry, and in the field of inborn errors such a bridging will be of great importance.