Screening for Lethal Genetic Disease

Abstract

Neonatal genetic screening was originally devised for phenylketonuria (PKU) which, although clinically silent during the immediate neonatal period, nonetheless requires prompt diagnosis and therapy soon thereafter to minimize brain damage. Screening procedures have now been introduced for a number of other diseases: one group shares the asymptomatic qualities of phenylketonuria in the newborn period (eg, hypothyroidism) and a second group (maple syrup urine disease, organic acidurias, galactosemia) exhibits life-threatening symptoms in the immediate neonatal period that demand immediate diagnosis and therapy. In this issue Talbot et al (Pediatrics 70:526, 1982)1 propose new screening procedures for two diseases that fall into the former group (argininemia and the hyperornithemias) and two diseases, argininosuccinate synthetase and lyase deficiencies, that fail into the latter group.