Case Report on Very Long Chain Acyl-Coa Dehydrogenase Deficiency in a Term Neonate
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive disorder affecting fatty acid β-oxidation, primarily caused by mutations in the ACADVL gene. This condition can manifest in neonates with severe symptoms, including hypoglycemia, cardiomyopathy, and sudden cardiac arrest, often leading to high mortality rates if not diagnosed early
Authors
- Zifang Chen (ORCID: https://orcid.org/0000-0001-7089-4941)
- Xiaohong Chen (ORCID: https://orcid.org/0000-0002-9797-8384)
Publication Details
- Journal
- Journal of Case Reports and Medical Images
- Published
- 2024-12-27
- DOI
- https://doi.org/10.52768/jcaserepclinimages/1159
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00