| Barth Syndrome | |
|---|---|
| Other names | 3-Methylglutaconic aciduria type II, X-linked cardioskeletal myopathy and neutropenia, BTHS, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, Cardioskeletal myopathy-neutropenia syndrome |
 | |
| Cardiolipin | |
| Specialty | Endocrinology  |
| Symptoms | Dilated cardiomyopathy, neutropenia, short stature, muscle weakness.[1] |
| Complications | Heart failure, delayed motor skills, infections.[1] |
| Usual onset | Infancy.[1] |
| Causes | Genetic mutation.[1] |
| Prognosis | Reduced life expectancy.[1] |
| Frequency | 1-9 / 1 000 000[2] |
Barth syndrome (BTHS) is a rare but serious X-linked genetic disorder, caused by changes in phospholipid structure and metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal.[3] The syndrome is diagnosed almost exclusively in males.
- ^ a b c d e "Barth syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2023-08-13.
- ^ "Orphanet: Barth syndrome". orpha.net. Retrieved 2023-08-13.
- ^ Claypool SM, Boontheung P, McCaffery JM, Loo JA, Koehler CM (December 2008). "The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome". Mol. Biol. Cell. 19 (12): 5143–55. doi:10.1091/mbc.E08-09-0896. PMC 2592642. PMID 18799610.