Broomfield Alexander, Grunewald Stephanie
Metabolic Medicine Unit, Great Ormond Street Hospital for Children with UCL Institute of Child Health, London, UK.
Arch Dis Child Educ Pract Ed. 2012 Apr;97(2):72-7; answer to quiz pg 80. doi: 10.1136/archdischild-2011-300194. Epub 2011 Nov 18.
Hyperammonaemia is a potentially extremely important indicator of impairment in intermediate metabolism. However, lack of experience in sample handling and confusion about what level is significant, can lead to its devaluation as a test. The aim of this article is to help the non-metabolic specialist to decide when it is appropriate to investigate for hyperammonaemia, to discuss potential investigatory pitfalls and to help in interpretation of results.