Format

Send to

Choose Destination
J Inherit Metab Dis. 2006 Aug;29(4):589. Epub 2006 Jul 8.

Pericardial effusion in primary systemic carnitine deficiency.

Author information

1
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand, radwc@mahidol.ac.th.

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.

PMID:
16830263
DOI:
10.1007/s10545-006-0335-7
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center