Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.

@article{Houtkooper2009CardiolipinAM,
  title={Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.},
  author={Riekelt H Houtkooper and Richard J T Rodenburg and Charlotte Thiels and Henk van Lenthe and Femke S Stet and Bwee Tien Poll-The and Janet E Stone and Colin G. Steward and Ronald J. A. Wanders and Jan A.M. Smeitink and Willem Kulik and Fr{\'e}d{\'e}ric M Vaz},
  journal={Analytical biochemistry},
  year={2009},
  volume={387 2},
  pages={
          230-7
        }
}
Barth syndrome (BTHS) is an X-linked recessive disorder caused by mutations in the tafazzin (or TAZ) gene and is clinically characterized by (cardio)myopathy, neutropenia, and growth abnormalities. Biochemical abnormalities include decreased levels of the mitochondrial phospholipid cardiolipin, increased levels of monolysocardiolipin, and a lower degree of unsaturation of the (monolyso)cardiolipin acyl chains. Diagnostic testing for BTHS is routinely performed by TAZ gene sequencing, and… CONTINUE READING

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