Clinical features
Presentation is most common in the neonatal period, usually from day three to five.
Metabolic decompensation is indicated by the onset of encephalopathy.
Infants may present with:
- lethargy
- decreased consciousness/coma
- seizures
- vomiting
- poor feeding
- respiratory distress
Children are prone to recurrent episodes of decompensation throughout childhood. These episodes are often precipitated by a febrile illness and vomiting is a frequent presenting feature.
Reference
- Venditti C et al. Propionic Acidemia. Gene Reviews (internet). May 2012, last update September 2024.
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