Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare but potentially life-threatening metabolic disorder. Protheragen is committed to developing cutting-edge in vitro diagnostic (IVD) products for the management of MCADD. As your reliable partner in MCADD research, we offer streamlined and comprehensive solutions to meet all your scientific research requirements.
Introduction to MCADD
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an inherited disorder which as a metabolic malady impairs the breakdown of specific fats to generate energy. It is among the rare oxidative fatty acid disorders with an estimated prevalence of 1 in 10,000 to 1 in 20,000 births although this may change between different populations and geographic locations. MCADD results from mutations in the ACADM gene that encodes for the enzyme medium-chain acyl-CoA dehydrogenase (MCAD). This enzyme is critical for the metabolism of medium-chain fatty acids which are significant energy sources during fasting or heightened energy activity.
Figure 1 β-oxidation and its relationship to MCADD. (Mason, Emily, et al., 2023)
Diagnostic Biomarkers for MCADD
Diagnostic biomarkers help shed light on the metabolic disturbance connected with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the help of these biomarkers, healthcare professionals can make an accurate diagnosis of MCADD, commence suitable therapeutic measures, and monitor the progress of the disease in a timely manner. The early interventions with diagnostic biomarkers for MCADD turned out to improve the intervention and care plan outcomes for the individuals
Metabolic Biomarkers
The increased levels of acylcarnitines, particularly octanoylcarnitine (C8) and decanoylcarnitine (C10) in blood and urine samples indicate disrupted fatty acid oxidation linked to MCADD and serve as metabolic biomarkers. Tandem mass spectrometry (MS/MS) is the primary technology used for the detection of these biomarkers.
Genetic Biomarkers
Changes within the ACADM gene responsible for encoding the MCAD enzyme are the basis for a confirmed case of MCADD. The information on the cause of the disorder is provided by specific technologies in genetic testing like PCR, Sanger sequencing or NGS, which detect associated mutations of the MCADD disease.
IVD Development for MCADD
The development of an in vitro diagnostic (IVD) for mid-chain acyl-CoA dehydrogenase deficiency (MCADD) is particularly significant in improving the screening, diagnosis, and management of this unusual metabolic disease. IVD kits for MCADD are expected to help healthcare professionals easily and accurately detect relevant metabolic abnormalities and genetic alterations related to the condition.
Specific acylcarnitines such as C8 and C10 found in biological samples are detected using metabolite detection kits. These kits utilize advanced analytical techniques which include tandem mass spectrometry (MS/MS) and liquid chromatography-mass spectrometry (LC-MS) so that the required quantitative values of the metabolites is known and timely interventions can be taken.
The ACAMD gene mutations can be analyzed using genetic detection kits, which employ PCR and gene sequencing in molecular biology for the analysis of DNA samples. These kits enable the identification of gene variations pertaining to MCADD. Thereby, the genetic detection kits allows the healthcare practitioners diagnose the MCADD on a genetic basis.
- Point-of-Care Testing (POCT) Kit
POCT kits for MCADD enable quick and immediate diagnosis, permitting the detection of metabolic aberrations and the corresponding genetic defects involved with the disorder. These portable kits are easy-to-use and provide rapid results which can be obtained outside the clinical laboratory increasing the availability of MCADD diagnosis.
Our Services
Through intensive research on diagnostic biomarkers for the medium-chain acyl-CoA dehydrogenase deficiency (MCADD), Protheragen is focused on the development of
IVD products designed for MCADD individuals. We provide diagnostic solutions for MCADD by
metabolite detection kits,
gene detection kits,
point-of-care testing (POCT) products, and additional
diagnostic devices. Our main goal is to provide cost-effective and reliable-economic IVD solutions.
Featured IVD Kit Development Services
- Octanoylcarnitine (C8) Detection Kit
- Decanoylcarnitine (C10) Detection Kit
- ACADM Gene Detection Kit
- Point-of-Care Testing (POCT) Kit
- MCAD Enzyme Activity Assay Kit
- More
IVD Product Development Services
Protheragen also provides
point-of-care testing (POCT) and
companion diagnostics development services for medium-chain acyl-CoA dehydrogenase deficiency (MCADD). These services help you design portable and user-friendly IVD tools to facilitate rapid identification and personalized therapies of MCADD. If you are interested in our services, please feel free to
contact us for more details and quotation information of related services.
Reference
- Mason, Emily, Charles CT Hindmarch, and Kimberly J. Dunham-Snary. "Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment." Endocrinology, diabetes & metabolism 6.1 (2023): e385.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
