Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation characterized by elevated levels of butyryl carnitine and ethylmalonic acid (EMA) in plasma. Protheragen is dedicated to providing comprehensive support and solutions for the investigation of mitochondrial diseases.
Introduction to SCADD
SCADD is an autosomal recessive inborn error of mitochondrial fatty acid oxidation, which involves the sequential cleavage of two-carbon units from fatty acids and serves as a crucial energy source for the body during periods of fasting and metabolic stress. SCADD is caused by a mutation in the ACADS gene, which encodes fatty acyl-CoA dehydrogenase (SCAD). The SCAD enzyme catalyzes key steps in short-chain fatty acid metabolism within mitochondria, and mutations result in decreased SCAD activity that affects fatty acid metabolism. Clinical manifestations include failure to thrive, metabolic acidosis, ketotic hypoglycemia, developmental delay, seizures, as well as neuromuscular symptoms such as myopathy and hypotonia.
Fig.1 SCADD – Biochemical pathways for alternative metabolism of butyryl-CoA. (Nochi, Z., et al. 2017)
Research Progress of SCADD
The research on SCADD has primarily focused on elucidating its pathogenesis, clinical manifestations, and potential therapeutic interventions. Molecular genetics studies are currently underway to identify diverse mutations in the ACADS gene, aiming to enhance our understanding of the correlation between different mutations and disease severity.
Novel Diagnostic Methods of SCADD
Advances in molecular genetics have facilitated the possibility of achieving a more precise diagnosis of SCADD. Genetic sequencing and mutation analysis can be employed to detect mutations within an individual's ACADS gene, thereby aiding in the diagnosis of SCADD.
Novel Therapies of SCADD
To date, the availability of specific treatments for SCADD remains limited. Several studies are currently investigating potential approaches to alleviate symptoms through dietary management, such as implementing restrictions on the consumption of short-chain fatty acids.
Our Services
The rare and severe mitochondrial disease, SCAD, poses significant challenges for patients and their families. In this context, the early and accurate diagnosis as well as the development of effective therapies are of utmost importance. Protheragen is dedicated to addressing this need by offering preclinical services and providing reliable support to researchers.
Mitochondrial Disease Diagnostics Development Service
To facilitate research and treatment, it is imperative to acquire a comprehensive understanding of the disease's characteristics and progression. Hence, we provide an array of diagnostic development services aimed at enhancing researchers' comprehension of SCAD's attributes and evolution.
Therapeutics Development Services for Mitochondrial Diseases
The moment the characteristics and progression of the disease are comprehended, our unwavering dedication lies in the advancement and exploration of treatments. Our services for treatment development are meticulously crafted to equip researchers with enhanced therapeutic alternatives and instill a sense of optimism.
Our Advantages
Protheragen offers comprehensive research support to address the characteristics of short-chain acyl-CoA dehydrogenase deficiency and is dedicated to advancing scientific progress and developing clinical treatments in related fields. If you are interested in our services or have any inquiries, please do not hesitate to contact us.
Reference
- Nochi, Z.; et al. (2017). Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms. Journal of inherited metabolic disease, 40(5), 641–655.
