Duangrurdee WattanasirichaigoonPongsak KhowsathitAnannit VisudtibhanUmaporn SuthutvoravutDussadee CharoenpipopSook Z. KimHarvey L. LevyVivian E. ShihMahidol University2018-08-202018-08-202006-01-01Journal of inherited metabolic disease. Vol.29, No.4 (2006), 589157326652-s2.0-79959329233https://repository.li.mahidol.ac.th/handle/123456789/23107A 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 polymorphisms (c.IVS3+6A>G, c.-77G>A, c.-78C>T, and p.S95S) were identified in the patient.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1007/s10545-006-0335-7