P044: First report of GLP-1 agonist use in MCAD deficiency
Abstract
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder of mitochondrial fatty acid oxidation. Affected individuals lack functional MCAD enzyme and are unable to metabolize medium-chain fatty acids, which can lead to metabolic crises and decompensation during periods of fasting. Standard management includes avoidance of fasting, caloric restriction, and high-fat/low-carbohydrate diets. Weight loss strategies that involve caloric restriction are typically contraindicated.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Diet and metabolism studies
Lipid metabolism and disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103535–103535
- Publication date
- 1 January 2026
- Language
- EN