Hyperammonaemia – Paed

Hyperammonaemia is a TIME CRITICAL medical emergency with the risk of death and serious neurological damage.

  • Most commonly associated with inherited disorders of amino acid and organic acid metabolism. However, it can also be seen in liver failure, sepsis, systemic herpes simplex in neonates, and drugs (sodium valproate, carbamazepine, leukaemia treatment with asparagine etc.)
  • Most children present in the neonatal period with vomiting, irritability or somnolence, poor feeding, failure to thrive, poor tone and developmental delay
    • Neonates can Acutely present in shock, with seizures, temperature instability, jaundice, hepatomegaly, low blood sugar, raised lactate, respiratory alkalosis (organic acidemia) and/or metabolic acidosis/alkalosis (urea cycle disorders).
    • Toddlers present more often with gastrointestinal symptoms such as vomiting and poor feeding.
    • Older children and adolescents present with more neurological symptoms such as altered behaviour, signs of intoxication, lethargy and encephalopathy
Hyperammonaemia flowchart

It is Expected that contact with the “Metabolic Consultant” in Manchester will be done by paediatrics

Full Guide : HERE

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