Saving lives through education, advances in treatment and finding a cure for Barth syndrome
Resources for clinicians
Bibliography of all published scientific and medical articles
A comprehensive on-line library which serves both the medical community and affected families.
Clinician Email Forum/Listserv
An on-going forum where members of our international Scientific and Medical Advisory Board, clinicians and researchers collaborate, ask questions and exchange the latest information about patients and treatments.
- Short Medical Brochure (read version / print version)
- Long Medical Brochure (read version)
- NHS Service Brochure
Genetics, pathology and cardiology posters – see NHS Awareness Posters
Testing for Barth syndrome
Detailed information about when and how to test.
Barth Syndrome Registry and Repository
Please see our Registry and Repository Page
- Anaesthesia Guidelines for Barth syndrome patients
- Heart failure
- Neutropenia in Barth syndrome
- Feeding problems and nutrition
- Preventing low blood sugar during night time and preventing the loss of muscle mass – using cornstarch/cornflour before bed
- How to manage episodes of diarrhoea
- Genetics of Barth syndrome
Peer-reviewed Orphanet Open Access Review of Barth syndrome
Clarke SLN, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, R McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Barth syndrome. Orphanet Journal of Rare Diseases 2013, 8:23.
This publication was funded by the Barth Syndrome Trust and the Barth Syndrome Foundation.
Human Tafazzin (TAZ) Gene Mutation and Variation Database Submission
Please use this database to search for known mutations and add any new data from your patients. We include all mutations and polymorphisms even when they are repeated. However, mutations within a family are not included as repeats. All mutations/polymorphisms are of unrelated cases.
Do you have a patient in crisis or need information about treating a patient with Barth syndrome? Please contact us and we’ll put you in touch with a clinician who has treated multiple patients with BTHS.