BARTH Syndrome

Summarized by Plex Health
Last Updated: 09 May 2022
structural and functional analyses of barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain. "structural and functional analyses of barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.", by Hijikata A, Yura K, Ohara O, Go M. f0020: Structural clefts in tafazzin and G3PAT. Clefts identified in the structure of (A) human Δ5 tafazzin and (B) G3PAT are shown. The atoms in the cleft are indicated by surface representation diagram. The red...

Barth syndrome is a rare problem characterized by a weakened and enlarged heart, weak point in muscular tissues used for movement, recurrent infections because of small numbers of white blood cells, and short stature. Barth syndrome takes place almost specifically in men. In men with Barth syndrome, expanded cardiomyopathy is often present at birth or develops within the first months of life. People with Barth syndrome may have elastic fibers in place of muscle fibers in some areas of the heart muscular tissue, which contributes to the cardiomyopathy. In people with Barth syndrome, the heart issues can lead to cardiac arrest. Most males with Barth syndrome have neutropenia. The degrees of leukocyte can be consistently low, can differ from normal to low, or can cycle in between normal episodes of low and normal. Some boys with this problem experience a development surge in adolescence and are of typical height as adults, yet many men with Barth syndrome remain to have short stature in adulthood. Men with Barth syndrome often have distinct facial features consisting of popular cheeks. Men with Barth syndrome have increased levels of a substance called 3-methylglutaconic acid in their blood and urine. Barth syndrome is among a group of metabolic disorders that can be detected by the visibility of increased levels of 3-methylglutaconic acid in urine. Despite the fact that most features of Barth syndrome exist at birth or in early stage, affected people may not experience health issue until later in life. The age at which people with Barth syndrome display screen symptoms or are diagnosed differs greatly. Men with Barth syndrome have a decreased life span.

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