Journal article

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome

Michiel Adriaan van Werkhoven, David Ross Thorburn, Agi Kyra Gedeon, James Jonathon Pitt

JOURNAL OF LIPID RESEARCH | AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC | Published : 2006

Abstract

Barth Syndrome (BTHS) is an X-linked recessive disorder that results in abnormal metabolism of the mitochondrial phospholipid cardiolipin (CL). CLs are decreased and monolysocardiolipins (MLCLs), intermediates in CL metabolism, are increased in a variety of tissues. Measurement of decreased CL levels in skin fibroblasts has previously been proposed as a diagnostic test for BTHS. We investigated whether elevated MLCL is specific for BTHS and whether the MLCL-to-CL ratio is a more sensitive and specific marker for BTHS. We measured CLs and MLCLs in skin fibroblasts from 5 BTHS patients, 8 controls, and 14 patients with biochemical and clinical findings similar to those in BTHS (group D), using..

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