Barth syndrome

Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. Lipids are fat-like substances that are important parts of the membranes found within and between cells and in the myelin sheath that coats and protects the nerves.

It is caused by a mutation in the tafazzin gene (TAZ, also known as G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. Neurological characteristics of BTHS, which affects multiple body systems, may include:

Reduced muscle tone (hypotonia) and muscle weakness
Fatigue
Undeveloped skeletal muscles

Other symptoms include:

Delayed growth
Varying degrees of physical disability
Methylglutaconic aciduria (an increase in an organic acid that results in abnormal mitochondria function)

There is no specific treatment for Barth syndrome, but medicines can treat some of the symptoms. Early and accurate diagnosis is important. A multi-disciplinary team of physicians and medical professionals may be needed for care.

How can I or my loved one help improve care for people with Barth syndrome?

Consider participating in a clinical trial so clinicians and scientists can learn more about Barth syndrome and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Barth syndrome at Clinicaltrials.gov, a database of current and past clinical studies and research results.

Where can I find more information about Barth syndrome?

More information may be available from the following resources:

Barth Syndrome Foundation
Phone: 914-303-6323

Genetic and Rare Diseases (GARD) Information Center

PubMed

Content source: https://www.ninds.nih.gov/health-information/disorders/barth-syndrome Accessed June 22, 2023.

The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.