A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis
This report represents the initial documentation of a LNF CPT II deficiency case characterized by the presence of two heterozyous <i>CPT2</i> variants: p.E174K and p.R554X. As a result, the p.R554X variant is potentially classified as a severe pathogenic variant. It further emphasizes the significance of early detection and precise mutation classification for effective disease.
Authors
- Van‐Thao Ta
- Thanh-Mai Bui
- Chi Dung Vu (ORCID: https://orcid.org/0000-0001-5079-0432)
- T. Tran
- Thuy Ngoc Pham
Institutions
- Hanoi Medical University (VN)
- Vietnam National Children's Hospital (VN)
- Nam Dinh University of Nursing (VN)
- Hanoi Lung Hospital (VN)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1016/j.ymgmr.2024.101170
- Citations
- 2
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.76
Funders
- Trường Đại học Y Hà Nội