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Barth syndrome

Barth syndrome Causes

BTHS gene mutations are related with cardiolipin molecules in the electron transport chain and the mitochondrial membrane formation. The length of the gene is 6,234 bases, 11 exons/10 introns, mRNA of 879 nucleotides, and amino acid sequence of 292 with a weight of 33.5 kDa. It is seen in the Xq28, the X chromosome long arm. The disease is a result of 60% frameshift, stop, or splice-site modification and 30% change in protein's charge. The disease is found entirely in males.

Barth syndrome Complications

Infant death due to cardiac failure Early childhood death due to cardiac failure Frequent/recurrent infections

Barth syndrome Definition

Barth syndrome also recognized as 3-Methylglutaconic aciduria type II and Cardiomyopathy-neutropenia syndrome it is an unusual hereditary disorder categorized by a lot of signs and symptoms and also includes motor skills being delayed, metabolism distortion, stamina deficiency, chronic fatigue, cardiomyopathy, delayed growth, and compromised immune system. The research or study of Dr. Peter Barth in the Netherlands and discovery in 1983 was the reason why the syndrome was named after him. He designed a pedigree chart where in it shows that the disease is an inborn behavior.

Barth syndrome Symptoms and Signs

Skeletal myopathy Delayed growth Endocardial fibroelastosis Heart is enlarged Low level of white blood cells Problems skeletally Increased urine level of 3-methylglutaconic acid Increased urine level of 2-ethyl-hydracrilic acid

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