In order to manage organic acidemias (OAs), early diagnosis and timely intervention is critical. At Protheragen, we are deeply committed to the improvement of both the diagnostic and the OAs understanding using state-of-the-art in vitro diagnostic (IVD) development services. Our aim is to offer comprehensive services covering the whole OAs diagnostic research and commercializtion.
Overview of Organic Acidemias (OAs)
Organic acidemias (OAs) are a collection of rare metabolic disorders. Their main feature is the inability to adequately metabolize myriad amino acids, lipids, or other organic substances. This leads to the deposition of toxic organic acids and its derivatives in blood, urine, and tissues, thereby causing various manifestations as well as life-threatening complications. OAs are characteristically due to lack of particular enzymes in certain metabolic routes.
Fig. 1 Main catabolic pathways of amino acids involved in organic aciduria. (Shakerdi, Loai A., et al., 2023)
Diagnostic Biomarkers for Organic Acidemias (OAs)
Diagnosing organic acidemias (OAs) is very important because these genetic metabolic diseases can lead to severe complications if mismanaged. Biomarkers are critical in the diagnosis of organic acidemias since they give measurable indicators of metabolism abnormalities which help in timely diagnosis and effective management of the cases.
Organic Acids
Organic acids are the hallmark biomarkers of OAs, resulting from the body's inability to metabolize certain amino acids or fatty acids. Elevated levels of specific organic acids in urine are detected using GC-MS.
Acylcarnitines
Acylcarnitines are byproducts of fatty acid breakdown which accumulate due to some enzyme deficiencies in organic acidemias. They may be measured in plasma using tandem mass spectrometry (MS/MS).
Amino Acids
Certain OAs are associated with elevated levels of specific amino acids due to metabolic blockages. Amino acids are quantified in plasma or serum using LC-MS/MS or ion exchange chromatography.
Genetic Biomarkers
Genetic testing identifies mutations of certain OAs and offers molecular evidence for the diagnosis. Gene mutations may be determined via Sanger sequencing, as well as NGS.
IVD Development for Organic Acidemias (OAs)
The timely diagnosis of organic acidemias (OAs) involves the use of in vitro diagnostic (IVD) tools. IVD development makes it possible to identify vital markers like organic acids, acylcarnitines, and associated genetic mutations, enabling screening, diagnosis, and monitoring of the disease. Novel IVD tools also aid in research and development of new drugs, thus creating new avenues for therapeutic possibilities. The following are IVD products that can be developed specifically for OAs.
Metabolite Detection Kit
Kits for metabolite detection are meant to analyze the level of organic acids, acylcarnitines, and other metabolites in the blood, urine, or plasma. These kits use contemporary tools for qualitative and quantitative analyses such as gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-tandem mass spectrometry (MS/MS) techniques.
Gene Detection Kit
Molecular confirmation of the diagnosis is provided by the gene detection kits that identify the mutations associated with organic acidemia. These kits focus on the following genes: GCDH, IVD, PCCA, PCCB, and MMUT. These kits incorporate Sanger sequencing as well as next-generation sequencing, enabling precision and wide scope of mutation analysis.
POCT Products
Point-of-care testing (POCT) products offer fast and portable diagnostic tools for OAs, making them suitable for immediate and emergent metabolic care, as well as for use in clinics and rural locations. These products employ lateral flow assays, microfluidic systems, or biosensors to identify important biomarkers such as organic acids, acylcarnitines, and certain amino acids
Our Services
Protheragen develops IVD solutions for organic acidemias (OAs). We remain dedicated to developing state-of-the-art reagents/kits for metabolite and genetic testing, designed to detect metabolic disorders and crucial gene mutations pertinent to OAs. We strive to provide automated diagnosis and proper management of OAs through innovative complementary diagnostic devices.
Featured IVD Kit Development Services
Committed to advancing IVD development for a range of organic acidemias (OAs), our proficient scientists excel in crafting enzyme activity detection kits, organic acid quantitative detection kits, gene detection kits, and more. Our expertise enables us to create a diverse array of specialized kits tailored for OAs, encompassing but not limited to:
| Disease Name |
Kits |
| Methylmalonic Acidemia (MMA) |
- Methylmalonyl-CoA Mutase Activity Assay Kit
- Methylmalonic Acid Quantitative Detection Kit
- Propionic Acid Quantitative Detection Kit
- Propionylcarnitine Quantitative Detection Kit
|
- MMUT Gene Detection Kit
- MMAA Gene Detection Kit
- MMAB Gene Detection Kit
- MMADHC Gene Detection Kit
|
| Propionic Acidemia (PA) |
- Propionyl-CoA Carboxylase Activity Assay Kit
- Propionic Acid Quantitative Detection Kit
- 3-Hydroxypropionic Acid Quantitative Detection Kit
|
- 3-Hydroxypropionate Quantitative Detection Kit
- PCCA Gene Detection Kit
- PCCB Gene Detection Kit
|
| Isovaleric Acidemia (IVA) |
- Isovaleryl-CoA Dehydrogenase Activity Assay Kit
- IVD Gene Detection Kit
|
- Isovalerylcarnitine Quantitative Detection Kit
- Isovalerylglycine Quantitative Detection Kit
|
| Glutaric Acidemia Type I (GA1) |
- Glutaryl-CoA Dehydrogenase Activity Assay Kit
- Glutaric Acid Quantitative Detection Kit
|
- 3-Hydroxyglutaric Acid Quantitative Detection Kit
- GCDH Gene Detection Kit
|
| Multiple Carboxylase Deficiency (MCD) |
- Holocarboxylase Synthetase Activity Assay Kit
- 3-Methylcrotonylglycine Quantitative Detection Kit
- 3-Hydroxyisovaleric Acid Quantitative Detection Kit
|
- Biotinidase Activity Assay Kit
- HLCS Gene Detection Kit
- BTD Gene Detection Kit
|
IVD Product Development Services
In appreciation of the role of point-of-care testing (POCT) in low resource areas, our scientists specialize in the development of rapid diagnostic tests for the detection of organic acidemias (OAs). Our focus is the development of companion diagnostics integrating specific diagnostic tests with personalized therapeutics of OAs. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Shakerdi, Loai A., et al. "Organic aciduria disorders in pregnancy: an overview of metabolic considerations." Metabolites 13.4 (2023): 518.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
