Barth syndrome is a rare but serious X-linked genetic disorder that primarily affects males. It is caused by changes in phospholipid structure and metabolism, which can affect multiple body systems and is potentially fatal. Symptoms of Barth syndrome can manifest in a variety of ways at birth, including hypotonia, signs of cardiomyopathy within the first few months of life, and a deceleration in growth in the first year, despite adequate nutrition. As patients progress into childhood, their height and weight lag significantly behind average, and some patients may also express mild or moderate learning disabilities. Other symptoms of Barth syndrome include:
- Enlarged and weakened heart (dilated cardiomyopathy)
- Weakness in muscles used for movement (skeletal myopathy)
- Recurrent infections
- 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, and a multi-disciplinary team of physicians and medical professionals may be needed for care. Clinical trials are also available for those who wish to participate and help improve care for people with Barth syndrome.
