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Underdiagnosis

Less than 200 boys have ever been diagnosed with Barth Syndrome worldwide. However, by April 2012, 30 unrelated families affected by the disease have been identified in the UK, with more than three quarters of these coming from Southern England alone. This implies a much higher frequency of this disease than has previously been suspected.

Many paediatricians remain unaware of the disease, its clinical features or diagnostic tests, and of many of its less well recognised features and presentations. Furthermore, the diagnosis has usually only been considered by doctors where a boy has a combination of cardiomyopathy, neutropaenia, failure to thrive and excess excretion of 3-methylglutaconic acid (3-MGC) in urine.  Yet boys with Barth Syndrome may completely lack neutropaenia or cardiomyopathy or 3-MGC aciduria, even though the disease is subsequently proven beyond all doubt by a combination of biochemical and genetic analysis.