Pericardial effusion in primary systemic carnitine deficiency.

• المؤلفون الرئيسيون: Duangrurdee Wattanasirichaigoon, Pongsak Khowsathit, Anannit Visudtibhan, Umaporn Suthutvoravut, Dussadee Charoenpipop, Sook Z. Kim, Harvey L. Levy, Vivian E. Shih
• مؤلفون آخرون: Mahidol University
• التنسيق: مقال
• منشور في: 2018
• الموضوعات: Biochemistry, Genetics and Molecular Biology; Medicine
• الوصول للمادة أونلاين: 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...