Newborn screening (NBS) is a well‐established state‐run public health program which has targeted the early identification of treatable diseases like classic galactosemia (CG) for over a decade. We describe the case of a symptomatic newborn with CG and an abnormal screen report, including ...
Ficicioglu and colleagues (3) report that children (ages 1-6 years) who have Duarte galac-tosemia (DG),2 a variant form of galactosemia, and are on a standard diet have typical concentrations of red blood cell (RBC) galactose 1-phosphate but increased concentrations of other galactose ...