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Jackasses

In: Film and Music

Submitted By brendan2014
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WHAT IS BARTH’S SYNDROME? * A rare but serious X-linked recessive genetic disorder of lipid metabolism.
WHAT IS BARTH’S SYNDROME?
A rare but serious X-linked recessive genetic disorder of lipid metabolism.

SIGNS/SYMPTOMS:
Weak heart muscle
A reduction in neutrophils
Muscle hypoplasia
Growth delay
Cardiolipin deficiency

CAUSES:
Barth syndrome is caused by mutations in the TAZ1 gene on the X chromosome.

WHO IS AFFECTED?
Affects primarily males, of any race. Females can have Barth syndrome but are mostly carriers of the mutated gene.

HOW IS IT DIAGNOSED?
Quantitative urine organic acid analysis.
Cardiolipin analysis of muscle, platelets, or cultivated cells.
Complete blood count and differential.
Echocardiogram.
DNA sequence analysis. QUANTITATIVE DATA:
Less than 10 newborns diagnosed each year averaging about 1 in every 300,000 to 400,000 births.

OTHER NAMES:
3-methylglutaconic aciduria
BTHS
Dilated cardiomyopathy
Neutropenia

CURE/TREATMENT:
There is neither specific cure nor specific treatment for Barth syndrome. Not all patients show all of the symptoms at one time, so they are treated as they rise. Paying close attention and monitoring is imperative
CAUSES:
Barth syndrome is caused by mutations in the TAZ1 gene on the X chromosome.

WHO IS AFFECTED?
Affects primarily males, of any race. Females can have Barth syndrome but are mostly carriers of the mutated gene.

HOW IS IT DIAGNOSED? * Quantitative urine organic acid analysis. * Cardiolipin analysis of muscle, platelets, or cultivated cells. * Complete blood count and differential. * Echocardiogram. * DNA sequence analysis. QUANTITATIVE DATA:
Less than 10 newborns diagnosed each year averaging about 1 in every 300,000 to 400,000 births.

OTHER NAMES: * 3-methylglutaconic aciduria * BTHS * Dilated cardiomyopathy *…...

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