Barth Syndrome and Neutropenia

Barth syndrome is an X-linked, hereditary cause for neutropenia, cardiomyopathy, muscle weakness and growth retardation. It is attributable to mutations of TAZ, a gene encoding a highly conserved acyltransferase necessary for the maintenance of the phospholipids of the inner layers of mitochrondrial membranes. There is a wide diversity in the TAZ mutations but as yet no recognized genotype-phenotype correlations.