Barth syndromeA rare, genetic disorder of lipid metabolism that primarily affects males. is an X-linked metabolic disorder, affecting only males. It has widespread systemic effects presenting with cardiomyopathyAn abnormal condition of the heart muscle. Occurs in some kinds of mitochondrial disease., neutropeniaAn abnormally low number of neutrophils, an abundant type of white blood cell that constitutes the first line of defense against microbes that enter the body. It is characteristic of some forms of mit, muscle weakness, stunted growth, exercise intolerance and abnormal skeletal structures. In many cases, it results in stillbirth. It is strongly related to mutationsgenetic variant, genetic change in the tafazzin gene, also known as […]
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