Show Summary Details
Page of

Inherited metabolic disorders in the Paediatric Intensive Care Unit 

Inherited metabolic disorders in the Paediatric Intensive Care Unit
Inherited metabolic disorders in the Paediatric Intensive Care Unit

Dilanee Sangaran

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

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.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.