In Barth Syndrome cardiolipins are decreased. A ratio of monolysocardiolipin to cardiolipin in cultured cells can aid in the diagnosis.
Location of cardiolipin formation: inner mitochondrial membrane
Method of analysis: HPLC-MS
Parameters:
(1) concentration of nonolysocardiolipin in cultured fibroblasts
(2) concentration of cardiolipin in cultured fibroblasts
ratio =
= (monolysocardiolipin) / (cardiolopin)
Interpretation:
• The normal ratio is < 0.23.
• In Barth syndrome the ratio is > 0.40 (often > 5)
