Diagnosing isovaleric acidemia (IVA) poses numerous difficulties. Using our extensive experience in IVA research, Protheragen is leading the development of novel IVD solutions aimed at improving the management of IVA. As a reliable partner in IVA diagnostic research, we offer exceptional support to assist you in fulfilling your research objectives.
Overview of Isovaleric Acidemia (IVA)
Isovaleraemic acidemia (IVA) is a very uncommon inherited metabolic disease due to a deficiency of isovaleryl-CoA dehydrogenase. This enzyme is vital in the catabolism of leucine, an amino acid critical to normal growth and development. If the enzyme is deficient or not working, isovaleryl-CoA along with all its derivatives like isovaleric acid, build up in the body. This has the potential of causing severe health problems including metabolic acidosis, severe neurologic insult, or worst case, threatening life through metabolic crises.
Fig. 1 Leucine catabolism pathway. (Schlune, Andrea, et al., 2018)
Diagnostic Biomarkers for Isovaleric Acidemia (IVA)
To manage isovaleric acidemia (IVA) effectively, the condition must be diagnosed accurately as well as in a timely manner. Early identification enables the quick implementation of interventions like dietary changes, supplementation or active steps to avert potential metabolic emergencies. Biomarkers are critical in making the right diagnosis of IVA so that healthcare practitioners do not confuse IVA with other metabolic conditions and take appropriate actions.
| Biomarkers |
Significance |
Detection Methods |
| Isovaleric Acid |
An increased concentration of isovaleric acid in the blood or urine samples is the signature biomarker of IVA. |
GC-MS |
| Isovaleryl Glycine |
Isovaleryl glycine is a highly specific urine biomarker for IVA. |
GC-MS |
| 3-Hydroxyisovaleric Acid |
Another important biomarker, 3-hydroxyisovaleric acid, is often elevated in the urine of individuals with IVA. |
GC-MS |
| Acylcarnitines (C5) |
In blood plasma, elevated levels of isovaleryl carnitine (C5 acylcarnitine) are a key diagnostic marker for IVA. |
GC-MS |
| IVD gene |
Molecular genetic testing is able to detect changes in the IVD gene that encodes the enzyme isovaleryl-CoA dehydrogenase. |
NGS |
IVD Development for Isovaleric Acidemia (IVA)
The diagnosis of isovaleric acidemia (IVA) is complex because it is uncommon, presents with a wide range of symptoms, and shares features with other organic acidemias. Thus, there is a clear need for precise diagnostic measures that are easy and quick to access for effective detection and therapeutics. The design of in vitro diagnostic (IVD) kits is crucial to the timely diagnosis and management of IVA.
Metabolite Detection Kit
Kits for metabolite detection are designed to recognize and measure primary biomarkers associated with IVA, which include isovaleric acid. These kits utilize gas chromatography-mass spectrometry (GC-MS) and tandem mass spectrometry (MS/MS) methodologies to accurately and reliably assess the metabolite concentration.
Gene Detection Kit
Kits for gene detection target abnormalities in the IVD gene that encodes isovaleryl-CoA dehydrogenase. These kits utilize molecular genetic testing techniques like next-generation sequencing (NGS) or focused PCR-based assays for the identification of pathogenic variants linked with IVA.
Point-of-Care Testing (POCT) Kit
POCT kits are suited for emergency and remote locations because they capture IVA markers in the shortest time possible. They often utilize simple formats like lateral flow assays or portable mass spectrometers for quantifying important metabolites or measuring enzyme activity in samples.
Our Services
Protheragen is committed to improving isovaleric acidemia (IVA) diagnostics with innovative IVD solutions. Our metabolite detection kits, gene detection kits, and point-of-care testing (POCT) kits enable accurate, reliable and affordable diagnostics. From custom assay development to collaboration on research projects, our staff is prepared to address your particular requirements.
Featured IVD Kit Development Services
- Isovaleric Acid Detection Kit
- Isovaleryl Glycine Detection Kit
- 3-Hydroxyisovaleric Acid Detection Kit
- Isovaleryl Carnitine (C5) Detection Kit
- IVD Gene Detection Kit
- Point-of-Care Testing (POCT) Kit
- Isovaleryl-CoA Dehydrogenase Activity Assay Kit
- More
IVD Product Development Services
To facilitate precision therapies for isovaleric acidemia (IVA), we offer companion diagnostic development services. These services have the capacity to determine the best possible therapeutic solutions for any given case by studying certain biomarkers or genetic indicators related to the condition. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Schlune, Andrea, et al. "Aspects of newborn screening in isovaleric acidemia." International Journal of Neonatal Screening 4.1 (2018): 7.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
