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Barth syndrome
rareBarth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
- Identifiers
- MONDO:0010543 OMIM:302060Orphanet:111
- Causal genes
- TAFAZZIN
- Part of
- 3-methylglutaconic aciduriaConstitutional neutropeniaDisorder of phospholipids, sphingolipids and fatty acids biosynthesisFamilial dilated cardiomyopathyInborn mitochondrial myopathySyndromic dyslipidemia
- Also known as
- 3-methylglutaconic aciduria type 2 · 3-methylglutaconic aciduria type II · BTHS · cardioskeletal myopathy with neutropenia and abnormal mitochondria · cardioskeletal myopathy-neutropenia syndrome
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