Barth syndrome
MeSH: D056889ORPHA: 111
Overview
lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Barth syndrome, sourced from HPO and Orphanet clinical annotations.
Dilated cardiomyopathyEndocardial fibroelastosisAbnormality of neutrophilsAbnormal mitochondrial morphology
Classification & Codes
MeSH Code
D056889Orphanet Code
ORPHA:111Barth syndrome
| MeSH | D056889 |
| Orphanet | ORPHA:111 |
| Treatments | 0 drug(s) |
| Symptoms on record | 4 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO