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However, even when a small number of DBS are analyzed, overlap between affected and non-affected patients is apparent. This marker appears to be valid as a second-tier approach for analysis of Gaucher disease but not for first-tier NBS. Glucosyl-sphingosine appears to be a more promising biomarker for Gaucher disease [ 44 ], but, again, it is most appropriate for second-tier analysis [ 45 ].

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Psychosine galactosyl-sphingosine accumulates in patients with Krabbe disease, and this metabolite is turning out to be useful in the post-NBS evaluation of newborns at risk of developing Krabbe disease [ 46 , 47 ]. Psychosine analysis requires a lengthy chromatographic separation time, making it unsuitable for high throughput NBS. Recently, a glycine-conjugated bile acid derivative was identified as a powerful biomarker for detection of Niemann—Pick-C [ 49 ].

In a limited pilot study of a few thousand DBS, the biomarker showed good specificity for the LSD arguing that an expanded pilot study is warranted. The exact biological function of the Niemann—Pick-C protein is uncertain. It is proposed to be involved in lipid transport across the lysosomal membrane, and thus an enzyme-based NBS assay is not relevant. These methods have been recently reviewed [ 51 , 52 ] and are thus not discussed in detail here. These results suggest that glycosaminoglycan analysis is most appropriate for second-tier analysis following first-tier analysis by measurement of the relevant lysosomal enzymatic activity in DBS.

Glycosaminoglycan analysis can also be done on the same DBS as the enzymatic assay so as to avoid newborn recall and thus family anxiety. Over the years, LSDs have been candidates to be evaluated for inclusion in national screening programmes. As knowledge on the prevalence increases, screening methods and therapeutic possibilities become increasingly available, and pilot studies have been completed, LSDs are being added to national or regional screening programs. The programme with possibly the most inclusions is the New York state screening program with about 3.

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In addition, 12—14 newborns were identified to be at high risk for developing Krabbe disease but are so far asymptomatic as far as we know [ 11 , 54 ]. Krabbe disease newborn screening is also in place in Missouri using fluorimetry, initially carried out by the New York newborn screening laboratory. A recent report showed that some , NBS samples were analysed identifying 40 cases with polymorphisms only clinically not relevant , and of 54 other referrals, with eight genotypes of unknown clinical significance, and 31 with one clinically relevant mutation [ 36 ].

Taiwan has an extensive program for LSD newborn screening.

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As noted above, newborn screening for Pompe disease in Asia is plagued by the enormous frequency of pseudodeficiency alleles. Hwu and M. In Europe, the screening for LSDs is in its early stages. There is also a small pilot screening study of LSDs in Hungary [ 29 ]. After retesting and genetic confirmation three cases of Gaucher, three cases of Fabry, nine cases of Pompe, and two cases with Niemann—Pick were identified, some of which were cases with new mutations and unknown clinical relevance.

Using a re-test protocol, they requested 19 recall samples identifying after diagnostic two work-up cases of MPS-I. Another Korean-based study investigated the screening for Pompe disease, also demonstrating that identifying infantile Pompe disease early leads to better efficacy of ERT [ 30 , 31 ].

One was the strongly improved efficacy of HSCT especially through the new possibility of using umbilical cord blood stem cells.

Abstracts presented at the 13th International Congress of Inborn Errors of Metabolism - ICIEM 2017

The second key factor was the improved performance of screening tests [ 56 ]. Screening for Pompe was not recommended, especially on the ground that the available screening method identifies both the infantile as well as the late onset, less severe and less progressive form, which may benefit less from the available ERT therapy. Screening for several LSDs is now feasible. Methods are available, both commercially and laboratory-developed and -validated, for up to 10 LSDs, sometimes in multiplex assays. A summary of these, as well as incidences, enzymes, biomarkers, and therapeutic options, is given in Table 2.

Second-tier methods including biomarker quantification and rapid targeted DNA sequencing to help stratify the positives from first-tier newborn screening are being rapidly advanced.

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In addition, developments for the addition of new treatment options and the refinement of existing treatment protocols quickly progresses. Summary of LSDs for which screening methods are available incidences, enzymes, biomarkers, therapeutic options, screening programmes. On the other hand, we are still in the early discovery phase when it comes to screening for some LSDs. A major challenge is the follow up of patients that are predicted to develop late-onset LSDs.

We should watch these early newborn screening programs closely so as to best plan additional programs. Author Contributions: Peter C. Schielen and Michael H. Gelb contributed equally in establishing this review. Evelien A. Kemper delivered valuable additions. Conflicts of Interest: Peter C.


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Schielen and Evelien A. Kemper declare no conflict of interest. Michael H. Gelb is a scientific advisor for Perkin Elmer Corporation and also receives funding from Biomarin, Shire and Ultrageneyx Pharmaceuticals. National Center for Biotechnology Information , U. Int J Neonatal Screen.

Author manuscript; available in PMC Jul Peter C. Kemper , 2 and Michael H. Gelb 3. Author information Copyright and License information Disclaimer. Copyright notice. The publisher's final edited version of this article is available at Int J Neonatal Screen. See other articles in PMC that cite the published article. Abstract Newborn screening for lysosomal storage diseases LSDs is increasingly being considered as an option.

Keywords: lysosomal storage disease, tandem mass spectrometry, fluorimetry, neonatal screening, newborn screening, enzyme replacement therapy, hematopoietic stem cell transfer, pilot screening program, biomarker. Introduction Lysosomal storage diseases LSDs are part of the group of rare inherited metabolic diseases.


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  5. What Are Lysosomal Storage Diseases Lysosomes are intracellular organelles that breakdown and recycle a range of complex cellular components including glycosaminoglycans, sphingolipids, glycogen fragments, and proteins. Hematopoietic Stem Cell Transplantation HSCT Hematopoietic stem cells, derived from donor bone marrow or umbilical cord blood may be therapeutic by repopulating tissues and secreting functional lysosomal enzymes in the extracellular space and blood.

    Gene Therapy As most LSDs are monogenic, they are potentially excellent candidates for gene therapy, especially since the technological possibilities of gene therapy are rapidly progressing. Table 1 Results of large scale LSD newborn screening pilot studies. Open in a separate window. Conclusions Screening for several LSDs is now feasible. Table 2 Summary of LSDs for which screening methods are available incidences, enzymes, biomarkers, therapeutic options, screening programmes. Footnotes Author Contributions: Peter C. References 1.

    1893 › Koth, Chas (p. 885)

    Lysosomal storage diseases: From pathophysiology to therapy. Annu Rev Med. Boustany RM. Lysosomal storage diseases—The horizon expands.