title: Pericardial effusion in primary systemic carnitine deficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand, radwc@mahidol.ac.th.
authors.forename: Duangrurdee
authors.initials: D
authors.lastname: Wattanasirichaigoon
authors.forename: Pongsak
authors.initials: P
authors.lastname: Khowsathit
authors.forename: Anannit
authors.initials: A
authors.lastname: Visudtibhan
authors.forename: Umaporn
authors.initials: U
authors.lastname: Suthutvoravut
authors.forename: Dussadee
authors.initials: D
authors.lastname: Charoenpipop
authors.forename: Sook Z
authors.initials: SZ
authors.lastname: Kim
authors.forename: Harvey L
authors.initials: HL
authors.lastname: Levy
authors.forename: Vivian E
authors.initials: VE
authors.lastname: Shih
mesh_terms: D002331:Carnitine / Q000172:deficiency* / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D027701:Organic Cation Transport Proteins / Q000235:genetics; D010490:Pericardial Effusion / Q000209:etiology*; D020641:Polymorphism, Single Nucleotide; D000074058:Solute Carrier Family 22 Member 5
chemical_list: D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine