TY - JOUR
T1 - Clinical presentation and natural history of Barth Syndrome
T2 - An overview
AU - Taylor, Carolyn
AU - Rao, Emily S.
AU - Pierre, Germaine
AU - Chronopoulou, Estathia
AU - Hornby, Brittany
AU - Heyman, Andrea
AU - Vernon, Hilary J.
N1 - Publisher Copyright:
© 2021 SSIEM
PY - 2022/1
Y1 - 2022/1
N2 - 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 presentation and natural history of Barth Syndrome, review key features of this disease, and introduce less common clinical associations. Recognition and understanding of the natural history of Barth Syndrome are important for ongoing patient management and developing endpoints for the demonstration of efficacy of new and emerging therapies.
AB - 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 presentation and natural history of Barth Syndrome, review key features of this disease, and introduce less common clinical associations. Recognition and understanding of the natural history of Barth Syndrome are important for ongoing patient management and developing endpoints for the demonstration of efficacy of new and emerging therapies.
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U2 - 10.1002/jimd.12422
DO - 10.1002/jimd.12422
M3 - Review article
C2 - 34355402
AN - SCOPUS:85112358759
SN - 0141-8955
VL - 45
SP - 7
EP - 16
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 1
ER -