Barth Syndrome (BTHS) By: Glorimar Vega

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.

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)

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.

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

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

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.

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

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.

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

Work Cited "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.