Diagnosis of adrenoleukodystrophy (ALD) relies on specific biomarker analysis and genetic testing. Our company is dedicated to advancing the field of ALD diagnosis through cutting-edge technologies and tailored solutions. By creating pioneering IVD reagents/kits and automated diagnostic equipment, our goal is to tackle the intricacies of ALD pathogenesis and diagnostic challenges.
Overview of Adrenoleukodystrophy
Adrenoleukodystrophy (ALD) is a rare genetic disorder associated with the X chromosome, affecting the nervous system and adrenal glands. It is characterized by the body's inability to break down very-long-chain fatty acids (VLCFAs), leading to their accumulation in various tissues, including the brain and adrenal cortex. This accumulation results in inflammation, damaging the myelin sheath that surrounds nerve cells and impacting nerve signal transmission.
ALD Prevalence
It is estimated that 1 in every 15,000 individuals worldwide is affected by ALD. Due to its X-linked inheritance pattern, the disease predominantly affects males. The prevalence of ALD underscores the importance of early and accurate diagnosis to promptly implement appropriate therapeutic strategies.
Pathogenesis of ALD
ALD is primarily caused by mutations in the ABCD1 gene, which encodes the ALDP protein necessary for the breakdown of VLCFAs. Defects in this gene result in the accumulation of VLCFAs, triggering a series of events that ultimately lead to the typical neurological and adrenal manifestations seen in ALD individuals.
Fig. 1 The role and mechanism of oxidative stress and inflammation in X-ALD. (Yu J, et al., 2022)
Diagnostic Biomarkers for Adrenoleukodystrophy
Adrenoleukodystrophy (ALD) diagnosis relies on identifying specific biomarkers that indicate the presence of the disease. These biomarkers play a crucial role in distinguishing ALD from other conditions with similar symptoms and guiding appropriate therapeutic strategies. Here are some key diagnostic biomarkers used in the assessment of ALD:
Elevated levels of VLCFAs, particularly hexacosanoic acid and tetracosanoic acid, in blood plasma are hallmark features of ALD. Measurement of VLCFA levels is a primary strategy for ALD diagnosis, with elevated concentrations indicating impaired VLCFA metabolism.
VLCFAs
Elevated levels of phytanic acid in plasma can also serve as a diagnostic biomarker for ALD. Phytanic acid accumulation is linked to impaired peroxisomal function, which contributes to the pathogenesis of ALD and can aid in the diagnostic process.
Phytanic Acid
Recent studies have identified lysophosphatidylcholine (LPC) as a potential biomarker for ALD. Altered levels of LPC in blood plasma have shown promise in distinguishing ALD individuals from healthy individuals, offering new avenues for diagnostic accuracy.
Lysophosphatidylcholine
IVD Development for Adrenoleukodystrophy
In the detection, confirmation, and management of Adrenoleukodystrophy (ALD), in vitro diagnostics (IVD) are crucial. The development of IVD tools for ALD primarily centers on two key areas: analyzing biomarkers and conducting genetic testing.
Biomarker Analysis
Very-long-chain fatty acids (VLCFAs), phytanic acid, lysophosphatidylcholine (LPC), and others serve as biomarkers for ALD diagnosis. By utilizing enzymatic assays, fluorescence assays, immunoassays, and other biochemical detection methods, IVD kits can be developed to identify specific biomarkers for ALD.
Genetic Testing
Genetic testing is pivotal in diagnosing ALD, targeting mutations in the ABCD1 gene. Through the use of advanced genetic sequencing and MLPA technology, diagnostic kits can be created to detect ABCD1 gene mutations effectively.
Our Services
Through in-depth research into the pathogenesis and metabolic pathways of Adrenoleukodystrophy (ALD), our company is dedicated to developing innovative IVD solutions for the precise identification and effective management of this genetic disorder. Our services encompass the development of metabolic biomarker detection kits, genetic testing kits, and complementary diagnostic devices. Our goal is to revolutionize ALD diagnostics by creating cutting-edge IVD products.
IVD Product Development Services
Optional IVD Products
- ABCD1 Gene Testing Kit
- VLCFA Detection Kit
- Phytanic Acid Detection Kit
- Lysophosphatidylcholine Detection Kit
- Primers and Probes
- DNA Extraction Reagents
- PCR Reagents
- And More
Additionally, our services include point-of-care diagnostics and companion diagnostics development tailored for Adrenoleukodystrophy (ALD). These offerings are instrumental in facilitating swift disease detection and early recognition of ALD. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Yu J, Chen T, Guo X, et al. The role of oxidative stress and inflammation in X-link adrenoleukodystrophy[J]. Frontiers in Nutrition, 2022, 9: 864358.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
