Transcript Barth Syndrome - Sacred Heart Academy

Barth Syndrome
(BTHS)
By: Glorimar Vega
History
• 1983, Netherlands
• Dr. Peter Barth
o Pediatric neurologist
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Metabolic disorder
Multisystem disorder
Occurs in males
3 Methylglutaconic aciduria type 2
Cause/Inheritance
• X-linked genetic inheritance
• Mother to son
o Shows no symptoms
• Rare- mother to daughter
• Mutation in the tafazzin gene
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Made by TAZ gene- G4.5
Found on long arm of X-chromosome
Acyltransferase in lipid metabolism
Abnormalities in cardiolipin
molecules(produces)
Cardiolipin Molecules
• Lipid found in mitochondria
o Energy producing organelle
• Electron transport chain
proteins
• Structure of mitochondria
Symptoms
• Low levels of white blood cells
o Neutropenia
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Skeletal muscle abnormalities
Weak muscle tone
Heart muscle weakness
Bacterial infections
More susceptible
Organic acids located in urine and
blood
Physical Characteristics
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Evident during infancy
Tall/broad forehead
Round face
Full cheeks
Prominent ears
Deep-set eyes
Testing
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Medical tests
Urine analysis
Complete blood count
Echocardiogram
Diagnosis
• Confirmed with DNA testing
o DNA Sequence Analysis
o DNA preparation
• Results of tests
• Family history
Treatment
• No specific treatment
• Physical therapy
o Help with reduced muscle tone
• Antibiotics
o To treat bacterial infections
• Heart medications
• Dietary supplement carnitine
o Lifestyle changes
• Artificial pacemaker
• Heart transplant
o Prevent heart failure for children
Summary
• X-linked recessive mutation
o Need only one copy of the gene
o 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
Work Cited
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"Artificial Pacemaker." Artificial Pacemaker. N.p., n.d. Web. 3 Dec. 2013.
"Barth Syndrome Diagnostic Laboratory Testing." Barth Syndrome Foundation -. N.p.,
n.d.
Web. 2 Dec. 2013.
"Echocardiogram: MedlinePlus Medical Encyclopedia." U.S National Library of
Medicine. U.S.
National Library of Medicine, n.d. Web. 3 Dec. 2013.
"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.
2013.
"KidsMD Health Topics." Barth Syndrome |  | Boston Children's Hospital. N.p.,
n.d. Web.
2 Dec. 2013.
"learn.parallax.com." Urinalysis Test Strip Color Chart. N.p., n.d. Web. 3 Dec. 2013.
"Saving lives through education, advances in treatment and finding a cure for
Barth syndrome."
Barth Syndrome Trust. N.p., n.d. Web. 3 Dec. 2013.