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Inherited metabolic disorders in the Paediatric Intensive Care Unit 

Inherited metabolic disorders in the Paediatric Intensive Care Unit
Chapter:
Inherited metabolic disorders in the Paediatric Intensive Care Unit
Author(s):

Dilanee Sangaran

DOI:
10.1093/med/9780198794592.003.0017
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date: 27 July 2021

Children presenting to intensive care with undiagnosed inherited metabolic diseases (IMDs) can pose a significant diagnostic and management challenge to intensivists. This chapter covers the range of presentations of IMDs in neonates in particular, addressing important points to be raised in the history and assessment of children suspected of these conditions—including perinatally. The main subgroups of IMD presenting in the neonatal period are explained: intoxication; energy deficiency; making and breaking complex molecules and seizures; and important differentiating features noted. Baseline investigations of a suspected IMD are listed, and the importance of considering and testing for hyperammonaemia discussed. The emergency treatment of acute crisis or first presentation of IMDs is set out, which includes calculating appropriate glucose intake. Finally, the chapter discusses the role of continuous veno-venous haemofiltration in hyperammonaemia and the option of liver and hepatocyte transplantation in severe recurrent cases.

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