Biomarkers in Lysosomal Storage Diseases
Abstract
:1. Introduction
2. Biomarkers
- (a)
- The biomarker should be easy to quantify in an accessible clinical substance (serum, plasma, urine, etc.) which reduces the need for invasive procedures (cerebrospinal fluid, tissue biopsy, etc.). It should be possible to quantify the concentration or activity level of the biomarker reliably, quickly, cheaply, and reproducibly.
- (b)
- Concentrations or activity of the biomarker must not be subject to wide variations in the general population.
- (c)
- The biomarker should ideally reflect the impact of the disease at all sites where it is manifest, not only at a select few sites.
- (d)
- To facilitate diagnosis, the biomarker should be specifically altered (elevated or reduced) in the relevant disease and unaffected by unrelated conditions. There should be a distinction in the prevalence of the biomarker in untreated patients and control subjects, and the prevalence should vary in response to treatment.
3. Role of Biomarkers in the Study of LSDs
3.1. Fabry Disease
3.2. Gaucher Disease
3.3. Krabbe Disease
3.4. Mucopolysaccharidoses
3.5. Niemann–Pick Disease
3.6. Pompe Disease
4. Chronology
Acknowledgments
Author Contributions
Conflicts of Interest
References
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|
LSD | Biomarkers | |
---|---|---|
Accumulated Substrate | Indirect Products | |
Fabry disease | Globotriaosylceramide (Gb3) |
|
Gaucher disease | Glucosylceramide |
|
Krabbe disease | Galactosylceramide |
|
Mucopolysaccharidoses | Dermatan sulfate Heparan sulfate Keratan sulfate Chondroitin-6-sulfate Chondroitin-4,6-sulfate Hyaluronic acid |
|
Niemann–Pick disease | Sphingomyelin Free cholesterol (in fibroblasts) |
|
Pompe disease | Glycogen |
|
Type | Title | OMIM | Prevalence (/100,000) [12] | Enzyme Deficiency | GAGs Accumulated | |
---|---|---|---|---|---|---|
MPS I-H | Hurler syndrome | 607014 | 8 P 0.82 BP | Alpha-l-iduronidase | IDUA | DS, HS |
MPS I-S | Scheie syndrome | 607016 | Alpha-l-iduronidase | IDUA | DS, HS | |
MPS I-HS | Hurler–Scheie syndrome | 607015 | Alpha-l-iduronidase | IDUA | DS, HS | |
MPS II | Hunter syndrome | 309900 | 6.7 P 0.68 BP | Iduronate-2-sulfatase | IDS | DS, HS |
MPS III-A | Sanfilippo syndrome A | 252900 | 0.5 P 1.4 BP | N-sulfoglucosamine sulfohydrolase | SGSH | HS |
MPS III-B | Sanfilippo syndrome B | 252920 | 0.09 P | N-alpha-acetylglucosaminidase | NAGLU | HS |
MPS III-C | Sanfilippo syndrome C | 252930 | - | Heparan acetyl-CoA: alpha-glucosaminide N-acetyltransferase | HGSNAT | HS |
MPS III-D | Sanfilippo syndrome D | 252940 | - | N-acetylglucosamine-6-sulfatase | GNS | HS |
MPS IV-A | Morquio syndrome A | 253000 | - | Galactosamine-6-sulfate sulfatase | GALNS | KS, C6S |
MPS IV-B | Morquio syndrome B | 253010 | - | Beta-galactosidase | GLB1 | KS |
MPS VI | Maroteaux–Lamy Syndrome | 253200 | 0.16 BP | N-acetylgalactosamine-4-sulfatase or Arylsulfatase B | ARSB | DS |
MPS VII | Sly syndrome | 253220 | 0.01 P | Beta-glucuronidase | GUSB | DS, HS, C4,6S |
MPS IX | Hyaluronidase deficiency | 601492 | - | Hyaluronidase | HYAL | HA |
© 2016 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC-BY) license (http://creativecommons.org/licenses/by/4.0/).
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Bobillo Lobato, J.; Jiménez Hidalgo, M.; Jiménez Jiménez, L.M. Biomarkers in Lysosomal Storage Diseases. Diseases 2016, 4, 40. https://doi.org/10.3390/diseases4040040
Bobillo Lobato J, Jiménez Hidalgo M, Jiménez Jiménez LM. Biomarkers in Lysosomal Storage Diseases. Diseases. 2016; 4(4):40. https://doi.org/10.3390/diseases4040040
Chicago/Turabian StyleBobillo Lobato, Joaquin, Maria Jiménez Hidalgo, and Luis M. Jiménez Jiménez. 2016. "Biomarkers in Lysosomal Storage Diseases" Diseases 4, no. 4: 40. https://doi.org/10.3390/diseases4040040