TY  - JOUR
AU  - Lahr, Ashley
AU  - Williams, Lee
AU  - Henderson, Nadene
AU  - Arnold, Georgianne
AU  - Ortiz, Damara
PY  - 2023
DA  - 2023/09/25
TI  - Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers
JO  - OBM Genetics
SP  - 194
VL  - 07
IS  - 03
AB  - Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infancy through adulthood. As treatments have become available for many of these disorders, newborn screening has been adapted for early identification and pre-symptomatic treatment. This article will review some of the LSD that are now being added to newborn screening panels, including globoid cell leukodystrophy (Krabbe), Gaucher disease, Fabry disease, Mucopolysaccharidosis Type I (Hurler; MPSI), Mucopolysaccharidosis Type II (Hunter; MPSII), Acid Sphingomyelinase deficiency (ASMD), and Pompe disease.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2303194
DO  - 10.21926/obm.genet.2303194
ID  - Lahr2023
ER  -