The only organization dedicated to saving lives around the world through education, advances in treatments, and finding a cure for Barth syndrome: a life-threatening genetic, multi-system disorder mostly affecting males.

Barth syndrome (BTHS; OMIM #302060) is a serious X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5), resulting in an inborn error of lipid metabolism.

What is Barth Syndrome? Approaches to Diagnosis. International Classification of Disease; Principal Clinical Diagnostic Criteria; Other Important Findings by System; Clinical Manifestations; Barth Syndrome Diagnostic Laboratory Testing; Biomarker and Genetic Testing Facilities for Barth Syndrome; References; Newly Diagnosed; Family Resources ...

About the Barth Syndrome Foundation (BSF) We are the only world-wide volunteer organization dedicated to saving lives through education, advances in treatment, and finding a cure for Barth syndrome (BTHS).

A male who inherits a genetic change from his mother would inherit a Y chromosome from his father and therefore not have a back-up copy of the Barth syndrome gene. This is why all males with a genetic change show the clinical features of Barth syndrome.

Oct 10, 2024 · Barth syndrome is an ultra-rare, life-threatening genetic disorder primarily affecting males. There are no FDA-approved treatments and no other therapies in late-stage clinical development. Studies show elamipretide can boost muscle …

Barth syndrome (BTHS) is a rare, X-linked genetic disorder of lipid metabolism that primarily affects males across different ethnicities. Typically, boys with BTHS present with hypotonia (low muscle tone) and dilated cardiomyopathy (labored breathing, poor appetite, and/or slow weight gain) at or within the first few months after birth.

We are a world leading source of support for research into the fundamental understanding of Barth syndrome (BTHS), diagnosis and treatments. If you are considering a diagnosis of Barth syndrome or for other reasons want information on this disorder, we can provide you with:

Mar 5, 2025 · – During Rare Disease Week on Capitol Hill (February 24-26, 2025), the Barth Syndrome Foundation (BSF) recognized 16 members of Congress as “Champions of Progress” for their unwavering advocacy on behalf of individuals and families affected by Barth syndrome. These lawmakers have demonstrated leadership in advancing policies that support ...

Jan 16, 2025 · The only organization dedicated to saving lives around the world through education, advances in treatments, and finding a cure for Barth syndrome: a life-threatening genetic, multi-system disorder mostly affecting males.