Tip 127: urea cycle disorders

Urea cycle disorders usually present in the neonatal period with vomiting, then progressive encephalopathy (lethargy, seizures, unconsciousness). They have hyperammonaemia in the absence of acidosis.

Reference: Rennie & Roberton’s Textbook of Neonatology, 5th Ed, 2012. London: Churchill.

First published: 19/06/14

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