Barth’s Syndrome Barth’s Syndrome is a rare and serious genetic disorder that affects males and is inherited by the mother. Barth Syndrome alters the BTHS gene in the X- chromosome and causes problems with the heart, immunity, and the male’s ability to thrive. By: Becca Schroeder

Also known as.. 3- Methylglutaconic Type 2 BTHS

Most like to get this disorder? Barth’s syndrome affects only males. It is found in many different ethnic groups, but does not appear more common in one group than another.

Symptoms There are many symptoms of Barth’s Syndrome. Symptoms may also start as early as the third trimester of the pregnancy but most often appear within the first 6 months of life. Some symptoms include:  Delayed growth  Skeletal problems  Low level of white blood cells  Weak heart  Frequent infections from a weak immune system  Low blood sugar  Muscle weakness  Fatigue  Endocardial fibroelastosis which is thickening of the heart muscle  And there are also many more.

How common is the disorder? Barth’s syndrome is not very common at all. About 1 in every 300,000 to 400,000 births and infants in the U.S. wind up having this disorder.

Is it deadly? Will it shorten lifespan? This disorder is only sometimes fatal, normally due to heart failure. Doctors catch this disease anywhere from the third trimester to a couple months after birth, so the lifespan will shorten if the infant dies of this disorder.

Can it be tested? How and when? This disorder can in fact be tested. The patient is admitted to several PCR’s that will amplify most of the TAZ-1 gene. The amplified gene fragments are sequenced and the nucleotide sequences are aligned to that of the normal gene to identify possible causative mutations.

Treatments? There is not a specific treatment or cure for this syndrome. Although there are antibiotics used to treat infections, white blood cell production, heart problems, and there is also a very restricted and monitored diet to provide proper nutrition to these young kids.

Support Groups? There are many support groups but the one that I found is Barth Syndrome Foundation. It is a community of families, physicians, scientists, donors, and volunteers around the world. They are dedicated to saving lives through education, advances in treatment, and finding a cure for Barth Syndrome. Their work consists of:  Raising awareness among physicians, scientists, and the general public  Supporting research through an international grant research program  Providing a caring and educational community for affected families  Hosting an information site They are trying to work together to make a difference in the lives of these young children and their families and are hoping to one day find a cure, and hopefully soon.

Interesting Facts Some interesting facts I found are:  The disorder affects males, yet the sons get the disorder from their mother.  It isn’t very common at all, only 1 of every 200,000 to 400,000 births in the U.S. get the disorder.  It is most commonly found in infants from the third trimester to about 6 months of age.  It is a recessive X-linked inheritance in which a mutation is found in a gene on the X chromosome.  Some doctors did some tests on mutations and found many different mutations such as, four splice-site mutations, three deletions, one insertion, five missense mutations, and one nonsense mutation.

Works Cited: