Inborn errors of metabolism

Abstract

One hundred years have passed since the first description of inherited metabolic diseases by Sir Archibald Garrod in his Croonian lectures. The disorders included alkaptonuria and cystinuria, both characterized by huge urinary excretions of organic acids or amino acids Garrod's patients had developed symptoms in adulthood, which is in contrast with the general practice of nowadays assuming that inborn errors are mainly paediatric disorders. It is, therefore, not surprising that much of the progress observed in the study of inborn errors originated from paediatric clinical chemistry laboratories. A close collaboration between paediatricians and paediatric clinical chemists has proven to be extremely fruitful in this respect. Netherlands' scientists have always played a prominent role in this field, as described below.