D2I2.
genetic

Propionic acidemia

Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase , is a rare disorder, classified as a branched-chain organic acidemia.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·Poor muscle tone, lethargy, vomiting

How it's found

  • · testing; high levels of propionic acid in the urine

Treatment

  • ·Low- diet

Outlook

  • ·Development may be normal, or patients may have lifelong learning disabilities
Plain-language summary adapted from Wikipedia. Not medical advice.