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Also known as
propionic acidemia
is a

Propionic acidemia (PA)

Propionic acidemia (PA) is a rare genetic condition where individuals cannot break down certain proteins and fats, leading to the build-up of harmful toxins that can cause damage to the heart, kidneys, pancreas, and brain. Patients can experience frequent metabolic crises that cause vomiting, lethargy and dehydration, and may require hospitalization. Other common disease manifestations include developmental delay, intellectual disability, movement disorders, low muscle tone, poor feeding and fatigue. Some individuals with PA may also experience heart abnormalities and cardiorespiratory symptoms. PA requires lifelong management and in some cases, can be life-threatening. Current management is aimed at controlling the diet to reduce protein intake and prevention of metabolic crises caused by fasting, fever, infection, and injury. There is currently no cure.

The latest on our research

We are jumpstarting our Propionic Acidemia program to accelerate research on the disorder to ultimately improve treatment options. We welcome all parents and caregivers interested in participating and spreading the word to the Propionic Acidemia community.

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