RT Journal Article
T1 Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders
A1 Alonso Fernández, José Ramón
A1 Fidalgo López, Javier
K1 Newborn screening
K1 Lysosomal storage disorders (LSDs)
K1 Urine samples impregnated in paper
K1 Berry-Woolf specimen
K1 Glycosphingolipids
AB Few current methods are efficient to detect a high number of lysosomal storage disorders (LSDs) in newborn screening. Therefore, we propose a stepwise procedure that starts with the use of paper borne urine samples (Berry-Woolf specimen) for the inexpensive detection of elevated lysosomal content and the identification of which of the three majors biochemical groups -mucopolysaccharides, oligosaccharides, and glycosphingolipids- is detected. Urine samples are preferable to blood samples because of their higher concentrations of the relevant analytes. Subsequent steps would precisely determine which enzyme deficiency is involved. As a summary, following our previous papers on the detection of elevated oligosaccharides and mucopolysaccharides, here we describe how elevated urinary glycosphingolipids (GSLs) could be fluorometrically detected using the reagent 5-hydroxy-1-tetralone (HOT) and subsequently identified with precision by continuous thin layer chromatography or other techniques. We also outline the steps required for the validation of this procedure for its introduction in newborn screening programs
PB SciELO
YR 2021
FD 2021
LK http://hdl.handle.net/10347/26596
UL http://hdl.handle.net/10347/26596
LA eng
NO Journal of Inborn Errors of Metabolism & Screening 2021, Volume 9: e20200011. DOI: https://doi.org/10.1590/2326-4594-JIEMS-2020-0011
DS Minerva
RD 1 may 2026