P019: Comparison of treatment efficacy of very long chain acyl-CoA (VLCAD) deficiency with an AAV9.hVLCAD vector, synthetic VLCAD mRNA, and triheptanoin
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is the most prevalent long chain fatty acid oxidation disorder, characterized by hypoglycemia, cardiomyopathy, and recurrent rhabdomyolysis. Previously we have reported the creation of a robust muscle specific long chain acyl-CoA dehydrogenase on a complete VLCAD deficient background (mAcadl-/-:Acadvl-/-; MDKO) mouse model exhibiting the major clinical manifestations in adolescents and adults, recurrent e rhabdomyolysis and progressive cardiomyopathy.
Authors
- Shakuntala Basu
- Jerry E. Vockley (ORCID: https://orcid.org/0000-0002-8180-6457)
- Bianca Seminotti (ORCID: https://orcid.org/0000-0002-9803-7746)
- Al‐Walid Mohsen (ORCID: https://orcid.org/0000-0002-0096-5959)
- Clinton Van’t Land (ORCID: https://orcid.org/0000-0002-0409-9541)
- Xuejun Zhao
Institutions
- University of Pittsburgh (US)
- Children's Hospital of Pittsburgh (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102863
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00