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Barth syndrome
? TBD
Human genetic metabolism disorder
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Wikipedia

Barth syndrome (BTHS) is an ultra-rare, but serious X-linked genetic disorder, caused by pathogenic variants in the TAFAZZIN gene, which leads to an inborn error of lipid metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal. The syndrome is diagnosed...

Instance of
developmental defect during embryogenesis
Rare disease
class of disease
Subclass of
Dyslipidemia
syndromic dyslipidemia
disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
X-linked recessive disorder
References
Wikidata