Carnitine palmitoyltransferase (CPT) deficiency greatly hinders an individual's ability to metabolize long-chain fatty acids. Protheragen focuses on providing integrated services for the in vitro diagnosis of uncommon metabolic diseases. By utilizing unique CPT deficiency biomarkers, we support the development of advanced IVD kits that are accurate, efficient, and easy to use, and thus help the research within this niche field.
Overview of Carnitine Palmitoyltransferase (CPT) Deficiency
Carnitine palmitoyltransferase (CPT) deficiency describes a rare hereditary disorder of metabolism resulting from the body's inability to adequately metabolize long-chain fatty acids. This is caused by mutations on the genes encoding for enzymes carnitine palmitoyltransferase I (CPT I) or carnitine palmitoyltransferase II (CPT II) that are responsible for the transport of fatty acids into mitochondria for β-oxidation. As a consequence of the deficiency, tissues become overwhelmed with fatty acids which causes a range of symptoms from mild myopathy to life-threatening bouts of rhabdomyolysis, liver dysfunction, and cardiomyopathy.
| Disease Types |
Affected Enzyme |
Causes |
Prevalence |
| CPT I Deficiency |
CPT I |
Mutations in the CPT1A gene (most common) |
Extremely rare |
| CPT II Deficiency |
CPT II |
Mutations in the CPT2 gene |
More common than CPT I deficiency |
Fig. 1 Schematic interaction that involves mitochondria and peroxisome during muscle cell fatty acids oxidation. (Negro, Massimo, et al., 2021)
Diagnostic Biomarkers for Carnitine Palmitoyltransferase Deficiency
Biomarkers are an indispensable tool in the diagnostic development for carnitine palmitoyltransferase (CPT) deficiency. They play a key role in early detection, disease monitoring, and subtype differentiation. By effectively utilizing biomarkers, diagnostic developers can improve the accuracy, efficiency, and impact of diagnostic tests for CPT deficiency.
Genetic Biomarkers
The genetic basis of CPT deficiency can be confirmed by testing for mutations in the CPT1A gene (CPT I deficiency) and the CPT2 gene (CPT II deficiency). Genetic tests may assist in distinguishing the various forms of CPT deficiency and aid in tailoring individual therapeutic approaches.
Metabolic Biomarkers
Elevated concentrations of long-chain ester carnitines like C16 and C18 in plasma may suggest possible CPT I deficiency. Lowered amounts of plasma free carnitine may suggest possible CPT II deficiency. The ratio of ester carnitine to free carnitine is important for the diagnosis of CPT Deficiency.
IVD Development for Carnitine Palmitoyltransferase Deficiency
In vitro diagnostic (IVD) products are essential for early diagnosis and timely intervention of carnitine palmitoyltransferase (CPT) deficiency. Early diagnosis aids in intervening promptly to prevent severe metabolic crises such as rhabdomyolysis, liver failure, or even fatality. IVD testing also helps differentiate CPT deficiency from metabolic disorders with similar symptoms like mitochondrial myopathies or fatty acid oxidation disorders, ensuring appropriate therapeutics.
- Genetic Testing Kit Development: This kit utilizes PCR or sequencing techniques to easily and reliably identify genetic changes in the CPT1A and CPT2 genes.
- Metabolite Detection Kit Development: The kits often identify abnormal plasma acylcarnitine profiles and altered plasma free carnitine levels through mass spectrometry, as well as other enzymatic detection methods.
Our Services
In order to address the gap of carnitine palmitoyltransferase (CPT) deficiency diagnosis, Protheragen prepares to provide complete IVD solutions to fulfill the needs in this area. We specialize in the development of nucleic acid and metabolite detection reagent/kit for the diagnosis of CPT deficiency. With supporting molecular diagnostic equipment, these reagents/kits can achieve accurate and reliable detection, promoting early diagnosis and timely intervention of CPT deficiency.
Featured IVD Development Services for CPT Deficiency
- CPT1A Gene Detection Kit Development
- CPT2 Gene Detection Kit Development
- Plasma Acylcarnitine Detection Kit Development
- Carnitine Detection Kit Development
- CPT Enzyme Activity Assay Kit Development
- Urine Organic Acid Analysis Kit Development
- CPT Deficiency Screening Kit Development (POCT)
- More
IVD Product Development Services
Protheragen is dedicated to delivering point-of-care testing (POCT) and companion diagnostic development services aimed at improving swift diagnosis and personalized therapeutics for CPT deficiency. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Negro, Massimo, et al. "Exercise, nutrition, and supplements in the muscle carnitine palmitoyl-transferase II deficiency: new theoretical bases for potential applications." Frontiers in Physiology 12 (2021): 704290.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
