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Barth Syndrome is named after the Dutch Paediatric Neurologist, Masa
Barth. The discovery of an X-linked mitochondrial disease affecting cardiac
muscle, skeletal muscle and neutrophil leucocytes was first mentioned in 1981
but was then full described in 1983. In 1991, 3-methylglutaconic aciduria was
found to be a clinical biochemical marker for Barth syndrome, G-CSF was then
successfully used to treat neutropenia in Barth Syndrome in 1995. (Barth Syndrome Foundation, 2016).

According to the scientific article “Orphanet
Journal of Rare Diseases” it states the Barth Syndrome was first described
in 1983 and it is widely regarded as a rare X-linked genetic disease
characterised by cardiomyopathy (CM), skeletal myopathy, growth delay,
neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA)
(Clarke et al, 2013). “Barth syndrome affects multiple body systems and is diagnosed in
mostly males. Fewer than 200 living males are known worldwide to be living with
this syndrome, however, with more evidence that is being gathered it is obvious
that this disorder is substantially under diagnosed” (Clarke et al, 2013). In 1999, Cantlay et al had reported
that there were five unrelated Barth Syndrome families identified from the
South-West of England and South Wales. This statistic has greatly increased
over the past few years where the NHS Specialised Services Barth Syndrome
Service (NSSBSS) has so far identified a total of 30 unrelated families that
have been affected by the disease in the UK where 22 of these are boys or men
are alive from 17 unrelated families.

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Barth syndrome has a very unique pathogenesis, it is the only known
human disease where the primary defect is remodelling of cardiolipin, a
phospholipid found in mitochondrial membranes. The syndrome affects many body
systems from foetal through to adult life. Because of this wide range it makes
it a very important condition of obstetricians, geneticists, general
paediatricians, cardiologists and neurologists to be aware of, especially since
rapid definitive biochemical testing has recently become available.

Barth Syndrome is usually passed from a carrier mother to her son
through a malfunctioning gene. This abnormal gene is carried on an X chromosome,
the syndrome is inherited in an X-linked recessive manner from mother to son as
males that carry an X-linked disorder pass their abnormal gene onto their
daughters and they then become the carriers of the abnormal gene. As females
have two X chromosomes they can usually block out the disease by ‘turning off’
one of them but as males carry one X and one Y chromosome then of the male
inherits an X chromosome that has been turned off and has a non-working gene within
It then there a huge possibility that he will develop this specific disease
associated with the non-working gene and this is the reason why Barth Syndrome
occurs majorly in males.  

The Genetic and Rare Diseases information Centre at the National Centre
for Advancing Translational Sciences states that “Barth
syndrome is caused by mutations in the TAZ gene, which is located on the X
chromosome. The TAZ gene provides “instructions” for a group of
proteins called tafazzins that serve at least two functions. First, these
proteins play a role in the maintenance of the inner membranes of structures
inside cells called mitochondria. Cells depend on mitochondria to produce the
energy they need. Tafazzins are supposed to make sure that the concentration of
a specific fat (cardio-lipin) is sufficient to maintain energy production
inside the mitochondria. Tafazzins also promote the development of bone cells.
Mutations in the TAZ gene that cause Barth syndrome disrupt the protein’s
ability to function correctly, thereby causing the signs and symptoms of Barth
syndrome.” (National Centre for Advancing Translational Sciences, 2011).

There are a few different causes of Barth Syndrome that have been
discovered over recent years. In males suffering with Barth Syndrome one of the
main symptoms is that dilated cardiomyopathy may be present at birth and if it
is not present at birth and there are other symptoms then there is a good
chance that it may start to develop in the first few months of their life. As
the person suffering from Barth Syndrome grows up and time goes on there is a
good chance that their heart muscle will start to become weaker resulting in
less blood being pumper around the body. As a result of a weakness in the heart
there is a possibility that some people may opt to have elastic fibres put in
place of their weakened muscle fibres within the part of the heart that
contributes to the cardiomyopathy.

Individuals suffering from Barth Syndrome may suffer from skeletal
myopathy, in particular of the muscles closest to the centre of the body, this
is usually very noticeable from birth and this causes hypotonia (low muscle
tone). Due to this muscle weakness it often causes a delay of the individual’s
motor skills such as crawling and walking and they usually suffer from extreme
tiredness during strenuous physical activity. The majority of the males that
suffer from this syndrome have neutropenia, this is where the levels of their
white blood cells can be consistently low (persistent) and they can vary from
normal to low (intermittent) or they can cycle between regular episodes of
normal and low (cyclical). Suffering from neutropenia makes it a lot more
difficult for the body to fight off the foreign invaders of the body such as
bacteria and a number of viruses, this means that these affected individuals
have an increased risk of recurring infections throughout their life. As well
as having the symptoms listed previously, someone suffering from Barth Syndrome
it is possible that the individual may have higher levels of 3-methylglutatonic
acid in their urine or blood.
There are a number of ways
to check if an individual has Barth Syndrome. There are a number of different
medical tests that may be carried out by a doctor to determine this, these
tests may include urine analysis and complete blood count. If the results from
these tests indicate that the individual has this syndrome, then further tests
and diagnosis will be confirmed with a DNA test. Once an individual has been
diagnosed with Barth Syndrome other tests including an echocardiogram may be
carried out to determine how severe the condition may be. The complete
diagnosis will then be made based on all the results gathered including medical
and family history information. There is also the option for pregnant woman to
get a prenatal DNA test.  

Once an individual has been diagnosed with Barth Syndrome there are a
number of treatments they may partake in, however there is no cure or specific
treatment for this condition yet. Any treatment that may be given to an
individual is used solely to help and reduce the symptoms or to help prevent
any complications such as infections. Below is a list of possible treatment
used to help treat Barth Syndrome;


Therapy: This is used to help any babies that are affected who may have reduced
muscle tone.

These are used to help prevent and treat bacterial infections.

changes: Doctors may suggest an individual to have a low-salt diet and
maintains a healthy weight.



transplant: This may be used in some severe cases if the individual’s condition
leads to cardiomyopathy to help prevent heart failure in the future.

With suffering from Barth Syndrome there are a number of sacrifices that
an individual has to make throughout their life. One of the main sacrifices
someone has to make is changes in their diet. As an individual grows up changes
happen that affects the body and their food choices. If suffering from this
condition at a young age the individual has to stick to a strict diet but as
their teenage years come they have a lot more freedom to choose what they eat.
However, it is still very important for the individual to eat foods that make
them feel good and healthy. Their healthy diet is just the same as any other
teenagers, but many people find it a lot harder to stick to when suffering from
Barth Syndrome and if they make bad, unhealthy food choices it will affect how
the person feels.

There are a number of tips that doctors may give someone that is
suffering from Barth Syndrome to help them maintain a healthy diet. One of
these main tips is to choose low GI carbohydrates, these foods are wholegrain
foods and are full of fibre so they fill the individual up for longer and take
longer to turn into fat. They are also advised to eat a protein in every meal
such as chicken, turkey, milk, nuts or eggs but they are warned to stay away
from ones that have extra fat such as pies, pasties or battered food. Breakfast
is a very important meal for someone who is suffering from Barth Syndrome ad
their body has used up all the stored energy overnight and if breakfast is
missed the body will start to use their muscles for energy is they have no

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