Propionic Acidemia

Community, Stories & Info

Propionic Acidemia is a rare metabolic disorder caused by a deficiency in an enzyme, called propionyl CoA carboxylase, that helps breakdown the amino acids of certain proteins. Signs and symptoms commonly begin at infancy and include hypotonia, vomiting, feeding issues, lethargy, dehydration and seizures. Early treatment is important and includes a low protein diet, formula and amino acid supplementation, L-Carnitine and antibiotics.

more > less <