Complications
- recurrent episodes of encephalopathy can lead to developmental delay and seizures
- neutropaenia and thrombocytopaenia predispose to infection and bleeding
- persistently raised levels of organic acids lead to:
- pancreatitis
- cardiomyopathy
- stroke (Basal ganglia)
- adults develop optic nerve atrophy
Reference
- Venditti C et al. Propionic Acidemia. Gene Reviews (internet). May 2012, last update September 2024.
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