Metabolic Kids in your ED28 July, 2011 by: colinparker
So, a well-looking child turns up to triage and gets given a high triage priority, simply because they have a Congenital Metabolic Disorder. Do we really have to jump to it, put in an IV cannula, and call the specialist?
There are individual subtleties in managing these children with Inborn Errors of Metabolism, but a few common principles apply. This short tour of a few commoner conditions should give you a handle on this important group of patients.
Outline: Caring for the Known-IEM patient
[cp] Welcome, intro, disclaimer
Patients usually well-known to the Hospital / team
Often phone ICU / own specialist beforehand
Guidelines exist for many conditions, and specific guidelines tailored to individual patients
Basics of ED care for:
[cp] Organic Acidaemias (MMA & PA)
[AM] how does Carnitine help?
[RR] Glutaric Aciduria (Type 1)
[cp] Fatty Acid Oxidation disorders
Common themes: take it seriously, act fast, get help, provide substrate
[AM] rationale for Newborn screening. Is it cost effective?
[all] Thanks, goodbye