Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria

Pino, Gisele; Conboy, Erin; Tortorelli, Silvia; Minnich, Sara; Nickander, Kim K.; Lacey, Jean M.; Peck, Dawn; Studinski, April; White, Amy; Gavrilov, Dimitar; Rinaldo, Piero; Matern, Dietrich; Oglesbee, Devin; Giugliani, Roberto; Burin, Maira Graeff; Raymond, Kimiyo

doi:10.1016/j.ymgme.2019.10.009

Cited by 11 publications

(6 citation statements)

References 16 publications

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“…In a real-world scenario, second-tier biomarker testing may be considered to reduce the false-positive rates for MLII/III screening. Elevated urinary and/or DBS GAGs and sulfatides has been reported for MLII/III, for which assays have also been described in DBS for first-tier or second-tier screening [ 12 , 15 , 22 , 43 , 44 ]. However, biomarker analysis was not performed in the current cohorts, since the levels of GAGs and sulfatides tend to be age-dependent and the DBS from our MLII/III cohort were not collected during the first weeks of life [ 15 , 44 ].…”

Section: Discussionmentioning

confidence: 99%

“…In addition, GlcNAc-PTase activity can be measured in fibroblasts or leukocytes [ 10 , 11 ]. A battery of storage materials, including oligosaccharides, glycosaminoglycans (GAGs), and sulfatides, can be found elevated in urine or dried blood spots (DBS) [ [12] , [13] , [14] , [15] , [16] ]. However, biochemical testing cannot definitively differentiate MLII from MLIII, therefore molecular analysis of GNPTAB and GNPTG are indicated for stratification [ 11 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

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Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

Hong

Pollard

et al. 2023

Molecular Genetics and Metabolism Reports

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

Hong

Pollard

et al. 2023

Molecular Genetics and Metabolism Reports

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“…One article [65] describes a procedure in which 3 mL of urine is used and arrives at the following conclusion:…”

Section: Discussionmentioning

confidence: 99%

Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders

Fernández

López²

2021

J. inborn errors metab. screen.

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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 groupsmucopolysaccharides, 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.

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“…Taking into consideration all these perspectives, the use of post-analytical tools in expanded NBS should be strongly suggested since the simultaneous evaluation of many metabolites may result in being difficult. These post-analytical tools, such as Region 4 Stork (R4S) and the more recent Collaborative Laboratory Integrated Reports (CLIR, https://clir.mayo.edu), are meant to improve the interpretation of the complex metabolite profile and to aid in the differential diagnosis of abnormal results, also reducing the possibility of false-positive and/or false-negative results [20,21]. In fact, a critical point of expanded NBS is to limit or better avoid the occurrence of such errors, sometimes arisen from a rigid application of cut-off values, mainly when further informative markers and analyte ratios are not evaluated [20].…”

Section: Discussionmentioning

confidence: 99%

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

et al. 2020

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Phenylketonuria (PKU) is a rare autosomal recessive condition affecting about 1 in 10,000 people in the Europe, with a higher rate in some countries, like Ireland and Italy. In Italy, newborn screening (NBS) by MS/MS allows the diagnostic suspicion of PKU and its variants (Hyperphenylalaninemia (HPA), Tetrahydrobiopterin (BH4) synthesis deficiency, and Tetrahydrobiopterin (BH4) recycling deficiency) through the quantification of Phenylalanine (Phe) and the Phenylalanine/Tyrosine (Phe/Tyr) ratio in dried blood Spot (DBS) samples. Here, we report a case of an HPA whose suspicion was possible with expanded NBS, even if the normal-weight newborn was in total parenteral nutrition (TPN). It is known that TPN may present metabolic alterations, mainly for amino acids at NBS in MS/MS, frequently causing false positives. Actually, TPN is considered a special protocol in NBS, requiring several sample collections. In particular, a DBS sample is required before TPN, at basal time point (48 h after birth) and 72 h after the end of the procedure. In the case we report, even if the first DBS sample (before TPN) resulted negative, the repeated NBS tests revealed increased levels of Phe and dramatically high Phe/Tyr ratio. Thus, the newborn was recalled, and the NBS test was repeated several times before that HPA suspicion was confirmed by other specific biochemical tests. This case highlights the importance of Phe/Tyr ratio, only detectable by MS/MS analysis, in supporting the diagnostic suspicion during amino acids administration in the neonatal period.

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Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria

Cited by 11 publications

References 16 publications

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

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