Urea Cycle Disorders

  • J. V. Leonard


Five inherited disorders of the urea cycle are now well described. These are characterised by hyperammonaemia and disordered amino acid metabolism. The presentation is highly variable: those presenting in the newborn period usually have an overwhelming illness, but the presentation may be subtle in those who present later in childhood or adult life.


Urea Cycle Sodium Benzoate Orotic Acid Waste Nitrogen Urea Cycle Disorder 
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© Springer-Verlag Berlin Heidelberg 1995

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  • J. V. Leonard

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