Article
Clinical presentation and natural history of Barth Syndrome: An overview.
Journal of inherited metabolic disease - 1 Jan 2022
Taylor Carolyn, Rao Emily S, Pierre Germaine, Chronopoulou Estathia, Hornby Brittany, Heyman Andrea, Vernon Hilary J
Abstract excerpt
Barth Syndrome is a rare X-linked disorder caused by pathogenic variants in the gene TAFAZZIN, which encodes for an enzyme involved in the remodeling of cardiolipin, a phospholipid primarily localized to the inner mitochondrial membrane. Barth Syndrome is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities, among other features. In this review, we will discuss the clinical...
Topics
- Acyltransferases
- Barth Syndrome
- Cardiolipins
- Cardiomyopathies
- Humans
- Mitochondrial Membranes
- Muscular Diseases
- Mutation
- Neutropenia