D2I2.
genetic

Barth syndrome

Barth (BTHS) is an ultra-rare, but serious disorder, caused by in the TAFAZZIN gene, which leads to an inborn error of lipid . It may affect multiple body systems, and is potentially fatal. The syndrome is diagnosed almost exclusively in males.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • · , neutropenia, short , muscle weakness

Causes — why it happens

  • ·

Complications

  • ·Heart failure, delayed motor skills,

Outlook

  • ·Reduced life expectancy
Plain-language summary adapted from Wikipedia. Not medical advice.