1. Barth Syndrome (BTHS)
By: Glorimar Vega

2. History 1983, Netherlands Dr. Peter Barth Metabolic disorder
Pediatric neurologist
Metabolic disorder
Multisystem disorder
Occurs in males
3 Methylglutaconic aciduria type 2
Occurs 1 in 300,000 births a year
Kids can die when they are very young as infants
Can live up to over 15 years old
One individual that lived up to when he was 40
Causes cardiomyopathy when heart muscle lessens which leads to poor functioning.

3. Cause/Inheritance X-linked genetic inheritance Mother to son
Shows no symptoms
Rare- mother to daughter
Mutation in the tafazzin gene
Made by TAZ gene- G4.5
Found on long arm of X-chromosome
Acyltransferase in lipid metabolism
Abnormalities in cardiolipin molecules(produces)

4. Cardiolipin Molecules
Lipid found in mitochondria
Energy producing organelle
Electron transport chain proteins
Structure of mitochondria
Mutation in taz gene makes the roduction of an enzyme needed to produce cardiolipin slower down. Which is a needed lipid which plays a role in energy metabolism.

5. Symptoms Low levels of white blood cells Skeletal muscle abnormalities
Neutropenia
Skeletal muscle abnormalities
Weak muscle tone
Heart muscle weakness
Bacterial infections
More susceptible
Organic acids located in urine and blood

6. Physical Characteristics
Evident during infancy
Tall/broad forehead
Round face
Full cheeks
Prominent ears
Deep-set eyes

7. Testing Medical tests Urine analysis Complete blood count
Echocardiogram
Urine analysis- chemical, physical and microscopic examination of urine.
- Makes sure your kidneys are working properly and certain components are not found in your urine.
Echocardiogram- allows the doctor to see the heart beating, see the valves and the heart itself.
transducer- releases high sound waves and slowly moves from your rib cage area to your heart.
Transmits the sound waves into electrical impulses so the doctor can then read them to give you a diagnosis.

8. Diagnosis Confirmed with DNA testing Results of tests Family history
DNA Sequence Analysis
DNA preparation
Results of tests
Family history

9. Treatment No specific treatment Physical therapy Antibiotics
Help with reduced muscle tone
Antibiotics
To treat bacterial infections
Heart medications
Dietary supplement carnitine
Lifestyle changes
Artificial pacemaker
Heart transplant
Prevent heart failure for children
Lifestyle changes- low-salt diet, maintain a healthy weight
Artificial pacemaker- helps keep the heart beating at a normal pace or rhythm.
It is implanted underneath your skin and is connected to your heart by wires.
Can be external-so not surgically implanted
Small battery-powered unit
Heart beat is too slow, sometimes normal- sometimes fast or slow.

10. Summary X-linked recessive mutation
Need only one copy of the gene
Mother-son
Discovered by Dr. Peter Barth-1980’s
Symptoms- muscle weakness, neutropenia, skeletal informalities, acids in urine
Diagnosis- blood tests, physical, DNA tests
Treatment- none, possibility- physical therapy, artificial pacemaker
Fatal at young age- can live up to around 40 years

11. Work Cited
"Artificial Pacemaker." Artificial Pacemaker. N.p., n.d. Web. 3 Dec
"Barth Syndrome Diagnostic Laboratory Testing." Barth Syndrome Foundation -. N.p., n.d.
Web. 2 Dec
"Echocardiogram: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S.
National Library of Medicine, n.d. Web. 3 Dec
"Functions of cardiolipin as modifiers of the Barth syndrome phenotype." Functions of
cardiolipin as modifiers of the Barth syndrome phenotype. N.p., n.d. Web. 3 Dec
"KidsMD Health Topics." Barth Syndrome |  | Boston Children's Hospital. N.p., n.d. Web.
2 Dec
"learn.parallax.com." Urinalysis Test Strip Color Chart. N.p., n.d. Web. 3 Dec
"Saving lives through education, advances in treatment and finding a cure for Barth syndrome."
Barth Syndrome Trust. N.p., n.d. Web. 3 Dec