A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis
Year: 2024
Type: article
Study design: Case Report
Abstract: Introduction: gene variants that can cause CPT II deficiency, only 16 variants of these are known to be associated with LNF. This report presents the case of a neonatal male diagnosed with lethal CPT II deficiency, characterized by the presence of two heterogeneous variants. Additionally, we provide a comprehensive review of all clinical symptoms, biochemistry, and reported pathogenic variants associated with LNF CPT II deficiency. Case presentation: p.E174K and p.R554X. Both the healthy father and mother carried heterozygous variants, p.R554X and p.E174K, respectively. Discussion: The symptoms of the LNF CPT II deficiency are characterized by the unavailability of fatty acids for energy production and the accumulation of lipids in tissues, primarily due to the extremely low activity of CPT II. The genetic variants associated with these cases are notably limited, and all of them are classified as 'severe' variants. In the presented case, the co-occurrence of p.R554X with another severe variant, p.E174K, manifests as LNF, this compelling evidence strongly supports the assertion that p.R554X is a potentially severe pathogenic variant contributing to CPT II deficiency. Conclusion: 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: Thi Chi Mai Tran, Van-Thao Ta, Thi Bao Bui, Chi Dung Vu, Thuy Ngoc Pham
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,410
Funder: Trường Đại học Y Hà Nội
OpenAlex ID: W4405141747