Pericardial effusion in primary systemic carnitine deficiency.
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.
Wattanasirichaigoon
Duangrurdee
D
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand, radwc@mahidol.ac.th.
Khowsathit
Pongsak
P
Visudtibhan
Anannit
A
Suthutvoravut
Umaporn
U
Charoenpipop
Dussadee
D
Kim
Sook Z
SZ
Levy
Harvey L
HL
Shih
Vivian E
VE
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
D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine