P078: Carnitine palmitoyltransferase-2 deficiency in a 4-year-old boy presenting with autism spectrum disorder: Continuing to uncover links between autism and carnitine
This report concerns a case of ASD associated with both CPT-2 and LZTR-1 deficiency. The patient does not exhibit classic findings of Noonan syndrome or schwannomatosis, suggesting contribution from his CPT-2 deficiency to his ASD symptomology.
Authors
- Berrin Monteleone (ORCID: https://orcid.org/0000-0001-6268-4995)
- R.A. Smith (ORCID: https://orcid.org/0000-0001-5202-8003)
- Meghan McGath
Institutions
- Island Hospital (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102922
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00