Taking into account the existence of stable biomarkers in the metabolic pathway of homocystinuria, the development of advanced IVD products can be pursued. Protheragen is at the leading edge of developing advanced tools for effective management of homocystinuria diagnosis. As a trusted collaborator in the study of the diagnosis of homocystinuria, we provide unmatched support that is tailored to your research goals.
Introduction to Homocystinuria
Homocystinuria is a rare inherited disorder in which the body cannot metabolize the amino acid methionine, resulting in the build-up of homocystine and its metabolites in the blood and urine. This disorder is most frequently a consequence of cystathionine beta-synthase (CBS) gene mutations, which leads to disruption of the step that converts homocysteine to cystathionine in the methionine cycle. Other forms of homocystinuria tend to accompany defects of the homocysteine metabolism enzymes and their cofactors, including methylenetetrahydrofolate reductase (MTHFR) or methionine synthase (MTR).
Fig. 1 Homocysteine metabolism pathway. (Al-Sadeq, Duaa W. and Gheyath K. Nasrallah., 2020)
Diagnostic Biomarkers for Homocystinuria
The detection of biomarkers associated with homocystinuria enables early identification of homocystinuria, which is critical for initiating therapeutics before complications develop. In addition, biomarkers can help differentiate homocystinuria from other metabolic disorders with similar symptoms, such as methylmalonic acidemia or cystathioninuria.
| Biomarkers |
Detection Significance |
Test Samples |
| Total Homocysteine (tHcy) |
High levels of tHcy are a signature feature of homocystinuria. |
Blood |
| Methionine |
People suffering from CBS deficient homocystinuria frequently demonstrate higher levels of methionine. |
Blood |
| Cystathionine |
Particularly in CBS deficient homocystinuria, low cystathionine levels can provide diagnostic corroboration. |
Blood, Urine |
| Methylmalonic Acid (MMA) |
Higher levels of MMA can suggest the presence of secondary homocystinuria due to a vitamin B12 deficiency or dysfunction of the MTR gene. |
Blood, Urine |
| CBS, MTHFR, or MTR Gene |
Detecting a mutation in the CBS, MTHFR, or MTR genes confirms diagnosis and classification of homocystinuria. |
Blood, Saliva |
IVD Development for Homocystinuria
The accurate and prompt diagnosis of homocystinuria hinges on the appropriate use of in vitro diagnostic (IVD) tools. The development of IVDs for homocystinuria concentrates on the production of effective, sensitive, and specific test kits designed to detect major biomarkers or associated gene mutations of the condition. These sophisticated IVD kits facilitate early diagnosis, effective monitoring and tailored therapeutic approaches.
Metabolite Detection Kits
Kits for detecting metabolites aim to quantify important biomarkers including tHcy, methionine, cystathionine, and MMA found in blood or urine samples. Such kits use sophisticated methods like ELISA, mass spectrometry, or colorimetric assays to ensure accurate and reliable results.
Gene Detection Kits
Gene detection kits utilize methods like PCR, next-generation sequencing (NGS), or microarrays to detect mutations in genes linked to homocystinuria, including CBS, MTHFR, and MTR. These kits provide a conclusive diagnosis and determine the precise type of homocystinuria.
Point-of-Care Testing (POCT) Kits
The POCT kits provide an on-the-spot diagnostic service for homocysteine, a feature which can greatly benefit remote areas or emergencies. Usually, these kits use lateral flow assays and spectrophotometry to obtain homocysteine and methionine levels in just a few minutes.
Our Services
From the discovery of novel biomarkers to the validation of diagnostic tests, Protheragen has unparalleled expertise in the full range of healthcare diagnostic innovations. We pride ourselves on offering modern and reliable IVD solutions including metabolite and gene detection kit development, as well as point-of-care testing (POCT) development.
Featured IVD Kit Development Services
- Total Homocysteine (tHcy) Detection Kit
- Methionine and Cystathionine Assay Kit
- Methylmalonic Acid (MMA) Detection Kit
- CBS Gene Mutation Detection Kit
- MTHFR and MTR Gene Testing Kit
- Rapid Homocysteine Test Kit
- Homocysteine and Methionine Monitoring Kit
- More
IVD Product Development Services
To achieve precision therapies for rare metabolic diseases, we provide companion diagnostic development services. These services assist in analyzing specific biomarkers and genetic markers related to the diseases to identify the best therapeutic choices for affected individuals. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Al-Sadeq, Duaa W., and Gheyath K. Nasrallah. "The spectrum of mutations of homocystinuria in the MENA region." Genes 11.3 (2020): 330.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
