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Dr Peter Barth first described the disease which carries his name in 1983. A detailed review of our modern understanding of the disease was compiled by the Bristol team in 2013 in conjunction with experts in the disease from the USA and members of the Barth Syndrome Trust and Barth Syndrome Foundation (USA). This is freely available to all by clicking on this link.

Dr Barth described a disease which affected only males (X-linked genetic inheritance) which was inherited through the female line of the family and could therefore affect males in multiple generations.

This disease is characterised by:

  • cardiomyopathy (heart failure), commonly starting at birth or during infancy
  • skeletal myopathy (muscle weakness and fatigue)
  • failure to thrive and
  • neutropaenia (low white blood cells)

Excessive excretion of organic acid in the urine, particularly of 3-methylglutaconic acid (3-MGC), was subsequently recognised. Testing for 3-MGC was used as the major biochemical test for the disease until recent years, although this test is unreliable and has now been superseded.

We now realise, however, that there are many additional features to Barth Syndrome and that these vary greatly from boy to boy, or even during the life of a particular person.

Some patients will have all features but others just one or a few. This makes the disease both difficult to diagnose and easy to miss.

This is a list of the major disease features and links for more information.