Alonso Fernández, José RamónFidalgo López, Javier2021-07-202021-07-202021Journal of Inborn Errors of Metabolism & Screening 2021, Volume 9: e20200011. DOI: https://doi.org/10.1590/2326-4594-JIEMS-2020-0011http://hdl.handle.net/10347/26596Few 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 programseng© 2021 JIEMS. This article is distributed under the terms of the Creative Commons Attribution 4.0 License (http://www.creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SciELO and Open Access pages (http://www.scielo.br/jiems/)Atribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/Newborn screeningLysosomal storage disorders (LSDs)Urine samples impregnated in paperBerry-Woolf specimenGlycosphingolipidsjournal article10.1590/2326-4594-JIEMS-2020-00112326-4594open access