Barth syndrome

Below you will find more information about Barth syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Barth syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Barth syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Barth syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


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.

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


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.


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

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