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Pericardial effusion in primary systemic carnitine deficiency.

Duangrurdee Wattanasirichaigoon, Pongsak Khowsathit, Anannit Visudtibhan, Umaporn Suthutvoravut, Dussadee Charoenpipop, Sook Z Kim, Harvey L Levy, Vivian E Shih
Journal of Inherited Metabolic Disease 2006 August
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 polymorphisms (c.IVS3+6A>G, c.-77G>A, c.-78C>T, and p.S95S) were identified in the patient.

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