TY  - JOUR
AU  - Kanungo, Shibani
AU  - Vergano, Samantha
AU  - Clark, Thomas
AU  - Madani, Rami
AU  - Schott, Melissa
AU  - Couch, Kira
AU  - Villela, Rubie
AU  - White, Natalie
PY  - 2024
DA  - 2024/01/12
TI  - Krabbe Disease–To Add or Not to Newborn Screening?
JO  - OBM Genetics
SP  - 210
VL  - 08
IS  - 01
AB  - Krabbe disease (KD), a severe neurodegenerative disorder, has been controversial in the space of newborn screening (NBS) in the United States. Families continue to advocate for the addition of KD to the Recommended Uniform Screening Panel (RUSP) after being declined for the second time in February 2023. Even with significant progress in KD screening tests, uncertainty about the phenotypic presentations, and effectiveness of hematopoietic stem cell transplant (HSCT) seems to have impeded the addition of this condition to the RUSP. Potential in-utero onset of symptoms in early infantile onset Krabbe disease (EIKD) raise questions on the ‘pre-symptomatic’ requirement of NBS. This paper reviews the current knowledge of KD, including accepted and investigational treatments to help further the discussion for adding KD on NBS panels. 
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2401210
DO  - 10.21926/obm.genet.2401210
ID  - Kanungo2024
ER  -