Saving lives through education, advances in treatment and finding a cure for Barth syndrome
How to diagnose Barth syndrome
Could you perhaps be missing a case of Barth syndrome?
There is no charge for testing UK patients as this is funded by NHS Specialised Services. Please make use of the free diagnostic test if the boy in question has ANY of the following symptoms.
- Left ventricular non-compaction
- Weak muscles
- Family history of a male pattern of cardiomyopathy where no genetic cause can be found
Especially if any of the above symptoms also coincide with either:
- Developmental delay
- Feeding and/or growth problems
Did you know?
- Barth syndrome can behave very differently between affected males
- 10% of affected boys and men always have normal blood neutrophil counts
- The level of 3-methylglutaconic acid can sometimes be normal in urine
- 3-5% of all young males with DCM may have Barth syndrome as the cause of their heart failure (This percentage may be even higher in those who are in heart failure at birth or develop it within the first year of life)
Information on Testing for Barth Syndrome
Testing for Barth syndrome in the past has so far mostly been restricted to boys with dilated cardiomyopathy (DCM) AND neutropenia AND excessive amounts of 3-methylglutaconic acid in their urine. However, it is increasingly clear that the disease can behave very differently between affected males. As just two examples: 10% of boys do NOT have low blood neutrophil counts and it is well recognised that the level of 3-methylglutaconic acid can sometimes be normal in urine.
Routine blood testing: Cardiolipin Analysis
Cardiolipin analysis is temporarily unavailable in the UK. The laboratory at Bristol Royal Infirmary continues however to facilitate testing for Barth syndrome by forwarding samples to the Academic Medical Centre (AMC) in Amsterdam for analysis. Analysis of samples sent via the Bristol laboratory to the AMC are free of charge.
Post mortem testing
If a patient is suspected to have died as a result of Barth Syndrome, cardiolipin analysis can be performed in cultured fibroblasts (skin cells). If fibroblasts are unavailable, please contact Vicki Powers to discuss details on 0117 342 2590 or by email at: victoria.powers@UHBristol.nhs.uk
Genetic testing by TAZ Gene Sequencing
The information on this page is taken from the NHS Barth Syndrome Service site – for further details please visit Barth Syndrome Service - Testing
Testing for Barth syndrome outside of the United Kingdom
Genetic testing is available in many different countries and we suggest you visit the following sites for details:
Cardiolipin tests (for a fee) are also available in The Netherlands where the test was developed with financial assistance and samples provided by BST and BSF.
For further information please contact Dr Kulik via e-mail firstname.lastname@example.org or phone (+31 0 20 566 2427)
Dr. W. Kulik (Mass Spectrometry/Metabolomics)
Clinical Biochemical Geneticist i.t.
Academic Medical Centre, University of Amsterdam
Lab. Genetic Metabolic Diseases, F0-224
P.O. Box 22700 1100 DE
Do you suspect your patient might have Barth syndrome?