Barth syndrome
| Barth syndrome | |
|---|---|
| Other names | 3-Methylglutaconic aciduria type II, X-linked cardioskeletal myopathy and neutropenia, cardioskeletal myopathy with neutropenia and abnormal mitochondria, cardioskeletal myopathy-neutropenia syndrome |
| Cardiolipin | |
| Specialty | Endocrinology |
| Symptoms | Dilated cardiomyopathy, neutropenia, short stature, muscle weakness |
| Complications | Heart failure, delayed motor skills, infections |
| Onset | Infancy |
| Causes | Genetic mutation |
| Prognosis | Reduced life expectancy |
| Frequency | 1–9 per 1,000,000 |
Barth syndrome (BTHS) is an ultra-rare, but serious X-linked genetic disorder, caused by pathogenic variants in the TAFAZZIN gene, which leads to an inborn error of lipid metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal. The syndrome is diagnosed almost exclusively in males.