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Article

Pericardial effusion in primary systemic carnitine deficiency.

Journal of inherited metabolic disease - 1 Aug 2006

Wattanasirichaigoon Duangrurdee, Khowsathit Pongsak, Visudtibhan Anannit, Suthutvoravut Umaporn, Charoenpipop Dussadee, Kim Sook Z, Levy Harvey L, Shih Vivian E

Abstract excerpt

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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Share to Carnitine
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Share to Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Organic Cation Transport Proteins

Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 16830263
DOI: 10.1007/s10545-006-0335-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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