The role of in vitro diagnosis (IVD) allows for prompt identification and treatment of propionic acidemia (PA) in a timely manner. Protheragen is committed to improving the PA diagnosis by providing high-quality diagnostic development services. We work towards achieving timely care, and complete control of this multi-faceted disorder by providing accurate, reliable, and cost-effective diagnostic solutions.
Introduction to Propionic Acidemia (PA)
Propionic acidemia (PA) is a rare genetic metabolic disorder caused by the absence of the enzyme propionyl-CoA carboxylase (PCC). This enzyme is critical to the break down of some amino acids and fatty acids that are required for energy production and proper cellular activity. In the case of PCC deficiency, harmful by-products including propionic acid and other related compounds build up in the body and results in numerous health problems.
Fig. 1 Pathophysiology of propionic acidemia (PA). (Zlamy, Manuela, et al., 2022)
Diagnostic Biomarkers for Propionic Acidemia (PA)
The early discovery and therapeutics of propionic acidemia (PA) hinges greatly on the timely detection made possible by diagnostic biomarkers. Affected individuals often have increased concentrations of propionylcarnitine and glycine in their urine or blood, which aid in the rapid diagnosis of the condition so that therapeutics can be enacted immediately to avert dire consequences like metabolic crisis or organ failure. Furthermore, the ability to identify specific biomarkers could make it possible to differentiate PA from other similar disorders, resulting in enhanced diagnostic accuracy and tailored therapeutic approaches.
| Biomarkers |
Description |
| Propionylcarnitine (C3) |
Elevated levels of propionylcarnitine (C3) in blood or plasma are a strong indicator of PA. |
| Methylcitrate |
Individuals suffering from PA are noted to build up methylcitrate, an outcome of propionate metabolism, in their urine. |
| 3-Hydroxypropionate |
3-Hydroxypropionic acid is also found at elevated levels in the urine of PA individuals as a direct result of impaired propionic acid metabolism. |
| Propionylglycine |
Propionylglycine is a glycine conjugate that builds up in the urine due to the body's attempt to detoxify excess propionate. Its detection supports the diagnosis of PA. |
| Ammonia and Ketones |
People suffering from PA may show increased forms of ammonia and ketones in the bloodstream during metabolic crises; these represent secondary biomarkers denoting acute metabolic decompensation. |
IVD Kits for Propionic Acidemia (PA)
The development of in vitro diagnostic (IVD) kits for propionic acidemia (PA) concentrate on the creation of specialized tools for accurate, efficient, and accessible diagnosis. The kits aim to capture essential biomarkers and genetic mutations of PA for differing diagnostic needs and environments.
Metabolite Detection Kit
Detection metabolite kits use advanced technologies to measure specific biomarkers such as C3, methylcitrate, and 3-hydroxypropionate. MS/MS or GC-MS technologies enable these detection kits to achieve high sensitivity and accuracy.
Gene Detection Kit
The kits detect the presence of mutations in both the PCCA and PCCB genes that code for the PCC enzyme. In order to detect relevant markers for PA, these kits use molecular diagnostic techniques like PCR and next generation sequencing (NGS).
Point-of-Care Testing (POCT) Kit
POCT kits are suited for quick diagnosis of PA, making them perfect for clinical sites that require immediate results. These kits are simple to use, easily transportable, and can identify important metabolites or genetic markers in a matter of minutes.
Our Services
Protheragen strives to propose novel solutions for the diagnosis and management of propionic acidemia (PA) by developing innovative
IVD tools based on our extensive research analyzing the pathogenesis and metabolism of PA. These include proprietary kits for
metabolite and
gene detection as well as supporting
diagnostic devices. We aim to elaborate novel IVD products for PA that would transform diagnostics for this
rare metabolic disease.
Featured IVD Kit Development Services
- Propionylcarnitine (C3) Detection Kit
- Methylcitrate Detection Kit
- 3-Hydroxypropionate Detection Kit
- Propionylglycine Detection Kit
- PCCA and PCCB Gene Detection Kit
- propionyl-CoA carboxylase (PCC) Activity Assay Kit
- Point-of-Care Testing (POCT) Kit
- More
IVD Product Development Services
Protheragen offers
point-of-care testing (POCT) and
companion diagnostic development services to expedite the diagnosis and precise therapies of propionic acidemia (PA), facilitating timely and accurate intervention. If you are interested in our services, please feel free to
contact us for more details and quotation information of related services.
Reference
- Zlamy, Manuela, et al. "Immunological memory and affinity maturation after vaccination in patients with propionic acidemia." Frontiers in Immunology 13 (2022): 774503.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
