The development of in vitro diagnostics (IVD) has made it easier to identify and manage lysosomal storage diseases (LSDs) early. Protheragen seeks to solve the obstacles related to LSD diagnosis through the development of modern genetic testing reagents/ kits and diagnostic devices. We pride ourselves as your dependable partner in LSD diagnostic research, providing robust and comprehensive solutions aimed at satisfying all scientific research needs.
Overview of Lysosomal Storage Diseases (LSDs)
Lysosomal storage diseases (LSDs) comprise a set of uncommon inherited metabolic conditions defined by the insufficient functioning of lysosomes. A lysosome is an organelle responsible for the digestion and degradation of many forms of biomolecules like proteins, lipids, carbohydrates, and others. When there is a malfunction or absence in lysosomal enzymes or associated proteins, toxic substrates build up within the lysosomes resulting in the breakdown of cells and gradual injury to organs and tissues.
Figure 1 Classification and pathogenic genes of lysosomal storage diseases. (Elmonem, Mohamed A., and Aya M. Abdelazim., 2020)
Diagnostic Biomarkers for Lysosomal Storage Diseases
Diagnostic biomarkers for lysosomal storage disease (LSDs) have significance in disease detection for the clinician as they can diagnose and track disease progression, as well as measure the effectiveness of therapeutics. The most important diagnostic markers of LSDs include certain lysosomal enzymes, undegraded metabolites in body fluids and tissues, abnormal genes, etc. Some diagnostic biomarkers of LSDs are provided in the table below.
| Disease |
Biomarker |
Sample Type |
| Gaucher Disease |
- Reduced glucocerebrosidase enzyme activity
- Elevated glucosylsphingosine (Lyso-Gb1)
- Mutations in the GBA gene
|
Blood |
| Fabry Disease |
- Reduced alpha-galactosidase A enzyme activity
- Elevated globotriaosylsphingosine (Lyso-Gb3)
- Mutations in the GLA gene
|
Blood, plasma, urine |
| Niemann-Pick Disease Type A/B |
- Reduced acid sphingomyelinase activity
- Elevated sphingomyelin
- Mutations in the SMPD1 gene
|
Blood |
| Krabbe Disease |
- Reduced galactocerebrosidase activity
- Elevated psychosine
- Mutations in the GALC gene
|
Blood |
| Pompe Disease |
- Reduced acid alpha-glucosidase (GAA) activity
- Elevated creatine kinase (CK)
- Mutations in the GAA gene
|
Blood |
IVD Kit for Lysosomal Storage Diseases
In vitro diagnostic kits (IVDs) are indispensable in the accurate and prompt diagnosis of lysosomal storage diseases (LSDs). The kit allows for the measurement of enzyme activity, genetic changes, and the levels of metabolites, which are crucial in understanding the aetiology and pathogenesis of LSDs.
Enzyme Activity Detection Kits
Detection kits for enzyme activity are fundamental for the testing of LSD through monitoring the activity of glucocerebrosidase, α-galactosidase A, and hexosaminidase A in various biological samples. These kits often employ either fluorescence or colourimetric determination methods.
Gene Detection Kits
Genetic detection kits are employed to detect the disease-causing mutations within the associated LSD-genes including GBA, GLA, and HEXA. These kits utilise polymerase chain reaction (PCR), next-generation sequencing (NGS), and microarray analysis for the identification of the variants.
Metabolite Detection Kits
Detection kits for metabolites determine the accumulation of substrates or by-products in biological samples such as glycosaminoglycans (GAGs), sulfatides and hemolysin-Gb1. The quantification of metabolites is performed using mass spectrometry (MS) and liquid chromatography (LC).
Our Services
By investigating the pathogenesis and metabolic pathways of lysosomal storage diseases (LSDs), Protheragen aims to create novel IVD tools for the precise detection and management of such rare metabolic diseases. Metabolite and enzyme activity test kits, genetic test kits, and auxiliary diagnostic devices are included in our designs. We seek to transform the diagnosis of LSDs through innovative IVD solutions.
Featured IVD Kit Development Services
| Types |
Kits |
| Enzyme Activity Detection Kits |
- Glucocerebrosidase Activity Detection Kits
- Alpha-galactosidase A Activity Detection Kits
- Hexosaminidase A Activity Detection Kits
- Arylsulfatase A Activity Detection Kits
|
- Acid sphingomyelinase Activity Detection Kits
- Alpha-L-iduronidase Activity Detection Kits
- Galactocerebrosidase Activity Detection Kits
- Acid alpha-glucosidase Activity Detection Kits
|
| Gene Detection Kits |
- GBA Gene Detection Kits
- GLA Gene Detection Kits
- HEXA Gene Detection Kits
- SMPD1 Gene Detection Kits
|
- IDUA Gene Detection Kits
- ARSA Gene Detection Kits
- GALC Gene Detection Kits
- GAA Gene Detection Kits
|
| Metabolite Detection Kits |
- Glucosylsphingosine Detection Kits
- Globotriaosylsphingosine Detection Kits
- Glycosaminoglycans Detection Kits
- Sulfatides Detection Kits
|
- Sphingomyelin Detection Kits
- GM2 ganglioside Detection Kits
- Psychosine Detection Kits
- Cholestane-3β,5α,6β-triol Detection Kits
|
IVD Product Development Services
Recognizing the importance of point-of-care testing (POCT) in resource-limited settings, Protheragen excels in developing rapid diagnostic tests for on-site lysosomal storage diseases (LSDs) detection. Our companion diagnostic development service focus on combining diagnostic tests with specific therapies to enable personalized therapies for LSDs. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Elmonem, Mohamed A., and Aya M. Abdelazim. "Novel biomarkers for lysosomal storage disorders: Metabolomic and proteomic approaches." Clinica Chimica Acta 509 (2020): 195-209.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
