PA symptoms often arise within the first year of an infant’s life, sometimes in the first days or weeks. These symptoms can include feeding difficulties, dehydration, lethargy, weak muscle tone, and delays in normal development. Without treatment, the condition can lead to seizures, strokes, heart disease, and even, tragically, death.
The dysfunctional or missing enzyme that causes PA is called propionyl CoA carboxylase and plays a role in how cells convert food into energy. Disruption to this metabolic process results in two problems. The first is a lack of energy in cells – an energy deficit – that hinders the ability of cells in vital tissue and organs in the body to function and grow properly. The second is a buildup of intermediates and unmetabolized fats and proteins that may become toxic at high levels.