P049: The long-chain fatty acid oxidation disorders (LC-FAOD) disease monitoring program: An evaluation of initial findings
The long-chain fatty acid oxidation disorders (LC-FAOD) disease monitoring program (DMP) is a multinational, observational, long-term, retrospective and prospective study of pediatric and adult patients with LC-FAOD. LC-FAOD are a group of rare, autosomal-recessive disorders of fatty acid metabolism in the mitochondria. These disorders may manifest in infants, but also commonly present in older children or adults following periods of increased metabolic demand, including physiologic stress, fasting, and prolonged exercise.
Authors
- Alberto del Valle
- Joel Hetzer
- Bridget Reineking
- Jerry E. Vockley (ORCID: https://orcid.org/0000-0002-8180-6457)
- Andrew Grimm
- Michal Inbar‐Feigenberg (ORCID: https://orcid.org/0000-0001-8128-5789)
- Anjali Aggarwal (ORCID: https://orcid.org/0000-0002-4683-0806)
- Barbara K. Burton
Institutions
- Lurie Children's Hospital (US)
- University of Minnesota (US)
- University of South Florida (US)
- Hospital for Sick Children (CA)
- Ultragenyx Pharmaceutical (United States) (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.2025.102893
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00