Newborn screening for metabolic diseases: saving children's lives and improving outcomes

Abstract

Newborn screening for metabolic diseases was initially introduced in the 1960s with a program for the early diagnosis of phenylketonuria. Guidelines for the introduction of additional conditions to the screen required that the condition was sufficiently common to merit screening, that it was treatable and that the cost of diagnosis was not prohibitive. Additional conditions added to the screen included congenital hypothyroidism and congenital adrenal hyperplasia. The recognition of medium-chain acyl0CoA dehydrogenase deficiency coupled to the advent of tandem mass spectrometry as a diagnostic tool allowed for the inclusion of many more conditions into screening programs, some of which do not fit the original criteria for inclusion. This presentation will discuss the current state of newborn screening for metabolic diseases and report on clinical outcome measures of patients identified by screening.