clinical features
Last reviewed 01/2018
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.