Volume 11, Issue 2 - Barth Syndrome Foundation
Volume 11, Issue 2 - Barth Syndrome Foundation
Volume 11, Issue 2 - Barth Syndrome Foundation
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Website: www.barthsyndrome.org<br />
Christopher (age 3)<br />
Andrew (age 22)<br />
<strong>Barth</strong> syndrome (BTHS; OMIM #302060)<br />
A rare, serious, genetic disorder primarily affecting males. It is found across different<br />
ethnicities and is caused by a mutation in the tafazzin gene (TAZ, also called G4.5),<br />
resulting in a complex inborn error of metabolism.<br />
Though not always present, cardinal characteristics of this multi-system disorder<br />
often includes combinations and varying degrees of:<br />
�� Cardiomyopathy (usually dilated with variable myocardial hypertrophy<br />
sometimes with left ventricular noncompaction and/or endocardial<br />
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�� Neutropenia (chronic, cyclic, or intermittent)<br />
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Underdeveloped skeletal musculature and muscle weakness<br />
�� Growth delay (growth pattern similar to but often more severe than<br />
constitutional growth delay)<br />
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Exercise intolerance<br />
�� 3-methylglutaconic aciduria (typically a 5- to 20-fold increase)<br />
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Do you know a boy<br />
with this genetic disorder?<br />
Cardiolipin abnormalities<br />
For more information, please visit <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong>'s website:<br />
www.barthsyndrome.org
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