1. Introduction
What is Barth Syndrome?
Barth Syndrome is a rare genetic disorder that primarily affects males. It is characterized by a range of symptoms, including cardiomyopathy (a disease of the heart muscle), skeletal muscle weakness, and neutropenia (low levels of neutrophils, a type of white blood cell). This condition is caused by mutations in the TAZ gene, which plays a crucial role in the production of cardiolipin, a lipid essential for mitochondrial function.
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