Progress in screening for inborn errors of metabolism

Summary

The inborn errors of metabolism are a series of individually rare biochemical anomalies some of which cause serious clinical manifestations. They are of great interest to biochemists and geneticists, as well as to paediatricians and internist for whom they often present special diagnostic and therapeutic problems. The study of the inborn errors of metabolism also has implications in the fields of epidemiology and social medicine. The number of known inborn errors of metabolism has increased rapidly in recent years, and others, as yet unidentified, presumably await recognition. Only a few of these conditions can be treated now, but the realisation that early diagnosis is essential in order to achieve good results has stimulated interest in the possibility of examining either whole populations or selected predisposed groups of individuals for biochemical differences which characterise particular inherited metabolic diseases.

This article reviews some recent developments with particular reference to the indications for such screening programmes and progress in the identification of previously unknown inborn errors of metabolism in otherwise homogeneous population groups. — The inborn errors of metabolism are due to single gene mutations. — Recognition of the asymptomatic individuals who are heterozygous for the abnormal gene causing the disease may be important clinically and the identification of these individuals has to be considered as one aspect of metabolic screening for the inborn errors of metabolism.