It is important to control and improve the prognosis of methylmalonic acidemia (MMA) through early intervention and diagnosis. Here at Protheragen, we are focused on the advanced MMA diagnosis and understanding through comprehensive in vitro diagnostic (IVD) development services. We aim to be the one-stop solution provider for everything ranging from MMA diagnostic research to its commercialization.
Introduction to Methylmalonic Acidemia (MMA)
Methylmalonic acidemia (MMA) is an uncommon genetic metabolic disorder that impacts the metabolism of some proteins and fats. It is the result of a deficiency of the enzyme methylmalonyl-CoA mutase or its coenzyme adenosylcobalamin (a form of vitamin B12). Consequently, it gives rise to the buildup of methylmalonic acid along with other toxic compounds within blood and tissues which leads to sobering health consequences.
Figure 1 Metabolic pathways related to methylmalonic aciduria type C and homocystinuria (MMACHC). (Chern, Tiffany, et al., 2020)
Diagnostic Biomarkers for Methylmalonic Acidemia (MMA)
The exact diagnosis of methylmalonic acidemia (MMA) relies on the detection and quantification of specific biomarkers associated with the metabolic disorder. These biomarkers aid in the determination of biochemical abnormalities underlying MMA which helps facilitate proper management of the condition.
| Biomarkers |
Description |
| Methylmalonic Acid (MMA) |
Elevated levels of methylmalonic acid in blood, urine, or cerebrospinal fluid are the hallmark of MMA. |
| Propionylcarnitine (C3) |
Increased levels of propionylcarnitine are a common indicator of MMA. This biomarker is particularly useful for early diagnosis in infants. |
| Methylcitrate |
Methylcitrate, a byproduct of propionate metabolism, is often elevated in the urine of individuals with MMA. |
| Homocysteine |
In some forms of MMA, particularly those involving cobalamin (vitamin B12) metabolism, elevated homocysteine levels may be observed. |
| Ammonia |
Elevated ammonia levels can occur in MMA individuals during metabolic crises, reflecting the body's inability to properly process nitrogen waste. |
| Mutant Gene |
By detecting mutations in MMUT, MMAA, MMAB, or MCEE genes, genetic testing is able to accurately determine MMA and assist in defining its different types. |
IVD Development for Methylmalonic Acidemia (MMA)
In vitro diagnosis (IVD) of methylmalonic acidemia (MMA) allows marking the presence of methylmalonic acid and its metabolites in blood and urine samples at an early stage. This makes it possible to intervene before significant symptoms manifest. The IVD developments can detect MMA-associated IVD metabolic disorders and confirm the genetic abnormalities, thus assisting in the disease diagnosis and precision therapies.
Current Status of IVD Development
Progress has already been made in the design and development of IVD tools used for MMA including assays that measure methylmalonic acid, evaluation of acylcarnitines, and mutation analysis of candidate genes. These tests have optimized the precision and effectiveness of MMA diagnosis and management.
Challenges of IVD Development
Nonetheless, the development of IVD for MMA also poses many problems. One of the most important relates to the creation of advanced IVD tests to quantify methylmalonic acid and other markers. Furthermore, one of the most difficult issues still remaining is the plight of making MMA IVD tests available and affordable in the resource-limited parts of the world.
Our Services
With an understanding of the difficulties in diagnosing methylmalonic acidemia (MMA), Protheragen strives to offer a complete one-stop
IVD solution for MMA to fill the gaps in this area. We specialize in developing
metabolite and
genetic testing reagents/kits for MMA. In conjunction with other
diagnostic devices, these tools can provide accurate and dependable testing for timely diagnosis and treatment of MMA.
Featured IVD Kit Development Services
- Methylmalonic Acid (MMA) Assay Kit
- Propionylcarnitine (C3) Assay Kit
- Methylcitrate Assay Kit
- Homocysteine Assay Kit
- Ammonia Assay Kit
- MMUT Gene Detection Kit
- MMAA Gene Detection Kit
- MMAB Gene Detection Kit
- MCEE Gene Detection Kit
- Methylmalonyl-CoA Mutase Activity Assay Kit
IVD Product Development Services
Protheragen's services are not limited to this. To expedite prompt diagnosis and personalized therapies for methylmalonic acidemia (MMA), we provide
point-of-care testing (POCT) and
companion diagnostic development services. These services play a crucial role in enhancing the efficiency and accuracy of MMA diagnostics, enabling personalized care strategies 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
- Chern, Tiffany, et al. "Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type." Developmental biology 468.1-2 (2020): 1-13.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
