Barth syndrome

Defects in tafazzin (TAZ) are the cause of Barth syndrome (BTHS). BTHS is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia. Presentation can be slowly progressive or sudden.

Alternative names

BTHS

Cardioskeletal myopathy with neutropenia and abnormal mitochondria

3 methyl glutaconic aciduria, type II

MGA, type II

Classification

  • Defects of phagocyte function

Inheritance

X-linked

OMIM

#302060 Barth syndrome; BTHS

#300069 Cardiomyopathy, dilated, 3A; CMD3A

*300394 Tafazzin; TAZ

Cross references

Incidence

Incidence is not known.