Due to their rarity and variable symptoms, mucopolysaccharidoses (MPS) are frequently diagnosed late or misdiagnosed. Protheragen is committed to the MPS diagnosis development through new technologies and personalized approaches. To resolve the difficulties associated with the MPS pathogenesis and diagnosis, we are developing novel IVD reagents/kits and portable diagnostic devices with the intention of radically changing the way this metabolic disorder is detected and managed.
Introduction to Mucopolysaccharidoses (MPS)
Mucopolysaccharidoses (MPS) refers to a collection of uncommon inherited metabolic disorders that stem from the lack of certain enzymes needed to hydrolyse glycosaminoglycans (GAGs), also known as mucopolysaccharides. These carbohydrates are important constituents of various connective tissues, bones, cartilage, and other structures in the body. If the GAGs are not broken down properly by the specific enzymes, cell, tissue, and organ damage along with an assortment of symptoms occurs over time due to its accumulation.
Figure 1 The pathogenetic mechanism of mucopolysaccharidoses (MPS). (Fecarotta, Simona, et al., 2020)
Diagnostic Biomarkers for Mucopolysaccharidoses (MPS)
The diagnosis of mucopolysaccharidoses (MPS) involves the detection of certain biomarkers that reflect enzyme deficiency and GAG accumulation. These biomarkers are vital for confirming the diagnosis, determining the specific type of MPS, and tracking the disease's progression.
Glycosaminoglycans (GAGs)
GAGs are long-chain carbohydrates that accumulate in tissues and body fluids due to enzyme deficiencies in MPS. Elevated levels of specific GAGs (e.g., dermatan sulfate, heparan sulfate, keratan sulfate, chondroitin sulfate) in the urine or blood are hallmarks of MPS.
Lysosomal Enzymes
MPS diseases are caused by deficiencies in specific lysosomal enzymes responsible for breaking down GAGs, such as alpha-L-iduronidase (IDUA), iduronate-2-sulfatase (IDS), and heparin N-sulfatase (SGSH). Measuring enzyme activity is a definitive method of diagnosis.
Mutated Genes
Genetic testing can identify mutations in genes associated with MPS, such as IDUA, IDS, SGSH, GALNS, and ARSB genes, thereby providing molecular confirmation of the diagnosis. Genetic testing is usually accomplished using Sanger sequencing and next-generation sequencing (NGS).
IVD Kits for Mucopolysaccharidoses (MPS)
In vitro diagnostic (IVD) kits are essential tools for the accurate and timely diagnosis of mucopolysaccharidoses (MPS). These kits enable healthcare professionals to detect enzyme deficiencies, measure glycosaminoglycan (GAG) levels, and identify genetic mutations associated with MPS. Several IVD kits for diagnosing mucopolysaccharidoses (MPS) are currently available on the market.
| Kits |
Applications |
Detection Methods |
| α-L-iduronidase (IDUA) Enzyme Activity Assay Kit |
This kit can be used for auxiliary diagnosis of MPS I by detecting the activity of α-L-iduronidase (IDUA). |
Fluorometric Assay |
| Total GAG Assay Kit |
This kit is used for the quantitative detection of total GAG in urine. |
Dimethylmethylene Blue (DMB) Method |
| Heparan Sulfate Assay Kit |
This kit is used for the quantitative detection of heparan sulfate in urine. |
ELISA |
| IDUA Gene Test Kit |
This kit can detect IDUA gene mutations and is used to confirm the diagnosis of MPS I. |
NGS/PCR |
| Rapid GAG Detection Kit |
This kit is used to detect total GAG in urine or blood. |
Lateral Flow Assay |
Our Services
At Protheragen, we specialize in developing IVD solutions for mucopolysaccharidoses (MPS). We are steadfast in our commitment to developing cutting-edge metabolite and genetic testing reagents/kits designed to accurately identify metabolic abnormalities and genetic mutations associated with MPS. Through innovative complementary diagnostic devices, we aim to facilitate automated diagnosis and effective management of MPS.
Featured IVD Kit Development Services
| Kit Types |
Kits |
| Enzyme Activity Assay Kits |
- α-L-iduronidase (IDUA) Enzyme Activity Assay Kit (MPS I)
- Iduronate-2-sulfatase (IDS) Enzyme Activity Assay Kit (MPS II)
- Heparan N-sulfatase (SGSH) Enzyme Activity Assay Kit (MPS IIIA)
- N-acetylgalactosamine-6-sulfatase (GALNS) Enzyme Activity Assay Kit (MPS IVA)
- Arylsulfatase B (ARSB) Enzyme Activity Assay Kit (MPS VI)
- β-glucuronidase (GUSB) Enzyme Activity Assay Kit (MPS VII)
|
| Urinary GAG Quantification Assay Kits |
- Total GAG Quantification Kit
- Heparan Sulfate Quantification Kit
|
- Dermatan Sulfate Quantification Kit
- Keratan Sulfate Quantification Kit
|
| Genetic Testing Kits |
- IDUA Gene Detection Kit (MPS I)
- IDS Gene Detection Kit (MPS II)
- SGSH Gene Detection Kit (MPS IIIA)
|
- GALNS Gene Detection Kit (MPS IVA)
- ARSB Gene Detection Kit (MPS VI)
- GUSB Gene Detection Kit (MPS VII)
|
| Point-of-Care Testing (POCT) Kits |
- MPS Rapid GAG Detection Kit
|
- MPS Enzyme Activity POCT Kit
|
IVD Product Development Services
To achieve precision therapies for mucopolysaccharidoses (MPS), Protheragen provides companion diagnostic development services. These services can help identify the most effective therapeutic options for affected individuals by analyzing specific biomarkers or genetic markers associated with the diseases. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Fecarotta, Simona, et al. "Pathogenesis of mucopolysaccharidoses, an update." International Journal of Molecular Sciences 21.7 (2020): 2515.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
