Newborn screening (NBS) for Krabbe disease, a rare neurodegenerative disorder caused
by deficient galactocerebrosidase (GALC) enzyme activity, has recently been implemented
in a number of US states. However, the spectrum of phenotypic manifestations associated
with deficient GALC activity complicates the management of screen-positive newborns and
underscores the need to identify clinically relevant biomarkers. Earlier studies with a small
number of patients identified psychosine, a substrate of the GALC enzyme, as a potential …