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 Xchromosome 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:
http://www.barthsyndrome.org/english/view.asp?x=1435&all=true
http://www.wrongdiagnosis.com/b/barth_syndrome/symptoms.htm
http://www.wrongdiagnosis.com/b/barth_syndrome/stats.htm
http://www.physorg.com/news155227141.html