Newborn Screening for Krabbe Disease and Identification of Minority Patients

Krabbe disease (KD) is a leukodystrophy caused by mutations in the galactosylceramidase (GALC) gene (Orsini et al., 1993). Treatment for KD consists of hematopoietic stem cell transplantation (HSCT), which is effective only if performed prior to symptom onset (Allewelt et al., 2017). Recent work has shown under-diagnosis of KD in Black and Hispanic children, and that certain racial/ethnic groups were less likely to receive HSCT (Bonkowsky et al., 2018; Ghabash et al., 2021). The potential for treatment with HSCT has led to efforts to increase early identification of KD patients with newborn screening (NBS) (Kwon et al., 2018).

Source: Pediatric Neurology - November 30, 2023 Category: Neurology Authors: Joshua L. Bonkowsky, Jacob Wilkes, Monika Baker, Anna Grantham, Joanne Kurtzberg, Joseph Orsini Tags: Short Communication Source Type: research