Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders
J. inborn errors metab. screen
;
9: e20200011, 2021. graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1250218
ABSTRACT
Abstract 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.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Diagnostic study
/
Screening study
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2021
Type:
Article
Affiliation country:
Spain
Institution/Affiliation country:
Independent research/ES
/
Universidade de Santiago de Compostela/ES
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