Clinical presentation and natural history of Barth Syndrome: An overview.
Barth Syndrome
TAFAZZIN
cardiolipin
cardiomyopathy
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
revised:
23
07
2021
received:
01
06
2021
accepted:
04
08
2021
pubmed:
7
8
2021
medline:
8
2
2022
entrez:
6
8
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
Cardiolipins
0
Acyltransferases
EC 2.3.-
TAFAZZIN protein, human
EC 2.3.1.-
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
7-16Informations de copyright
© 2021 SSIEM.
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