Barth syndrome

Barth syndrome is caused by changes in the tafazzin (TAZ) gene. More people are using the full name tafazzin when referring to this gene, due to another gene with the same abbreviation (not related to Barth syndrome). Tafazzin gene changes are also associated with a heart condition called isolated left ventricular noncompaction (LVNC), but this occurs rarely. The tafazzin gene contains instructions for the tafazzin protein, which is located in mitochondria, the energy-producing parts of cells in the body. Tafazzin protein is involved in altering cardiolipin, which plays a critical role in the mitochondrial inner membrane. This problem also causes certain compounds to build up in the body, such as 3-methylglutaconic acid (3-MGC) and monolysocardiolipins (MLCL).