Pericardial effusion in primary systemic carnitine deficiency.

• Main Authors: Duangrurdee Wattanasirichaigoon, Pongsak Khowsathit, Anannit Visudtibhan, Umaporn Suthutvoravut, Dussadee Charoenpipop, Sook Z. Kim, Harvey L. Levy, Vivian E. Shih
• 其他作者: Mahidol University
• 格式: Article
• 出版: 2018
• 主題: Biochemistry, Genetics and Molecular Biology; Medicine
• 在線閱讀: https://repository.li.mahidol.ac.th/handle/123456789/23107

A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD reported to have pericardial effusion. Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 pol...