Article
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.
Journal of inherited metabolic disease - 1 Mar 2015
Bowron Ann, Honeychurch Julie, Williams Maggie, Tsai-Goodman Beverley, Clayton Nicol, Jones Lucy, Shortland Graham J, Qureshi Shakeel A, Heales Simon J R, Steward Colin G
Abstract excerpt
Barth syndrome (BTHS) is an X-linked disorder characterised by cardiac and skeletal myopathy, growth delay, neutropenia and 3-methylglutaconic aciduria (3-MGCA). Patients have TAZ gene mutations which affect metabolism of cardiolipin, resulting in low tetralinoleoyl cardiolipin (CL(4)), an increase in its precursor, monolysocardiolipin (MLCL), and an increased MLCL/CL(4) ratio. During development of a diagnostic...
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