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.
Highlights
Lysosomal storage disorders (LSDs) comprise a heterogeneous group of approximately seventy [1] inborn errors of metabolism (IEMs) caused by the absence or malfunction of hydrolases required to degrade certain complex substrates into simpler molecules inside cellular lysosomes
Urine was the matrix employed in the original newborn screening programs [20], and paper-borne urine samples (Berry–Woolf specimens) are still used in our, laboratory to screen for amino acids disorders, sugar disorders [21], and in recent years, two groups of LSD: mucopolysaccharidoses and oligosaccharidosis
It proposes resuming the collection of dried paper borne urine samples
Summary
Lysosomal storage disorders (LSDs) comprise a heterogeneous group of approximately seventy [1] inborn errors of metabolism (IEMs) caused by the absence or malfunction of hydrolases required to degrade certain complex substrates into simpler molecules inside cellular lysosomes. Urine was the matrix employed in the original newborn screening programs [20], and paper-borne urine samples (Berry–Woolf specimens) are still used in our, laboratory to screen for amino acids disorders, sugar disorders [21], and in recent years, two groups of LSD: mucopolysaccharidoses and oligosaccharidosis. Their collection and use are at most, marginally more demanding than those of blood spots [22], and their introduction in screening programs that are currently and exclusively blood spot based would not be difficult. Once a suitably large real series of newborns has been screened (e.g., 2,000), a more appropriate cutoff can be established (e.g., 90th or 95th percentile) and the diagnostic quality parameters recalculated
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