Neonatal Screening for Inherited Disease

The latest addition to an enlarging list of inherited metabolic diseases that can be detected and effectively treated by means of programs of neonatal screening is described by Wolf and his colleagues in this issue of the Journal.1 The authors have developed a simple colorimetric test for biotinidase deficiency that can be employed with spots of blood dried on filter paper, and they have demonstrated that the test is suitable for incorporation into a statewide program of neonatal screening. In fact, 2 infants with the disease were identified among 81,243 infants screened.Biotinidase deficiency causes multiple carboxylase deficiency.2 It . . .