Metabolic Kids in your ED

28 July, 2011 by: colinparker

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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:

[kb] Hyperammonaemia

[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

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3 Responses to “Metabolic Kids in your ED”
  1. FERAL POM says:

    My goodness – what an interesting post Mr Parker.
    I have a grandson with MCAD and a granddaughter who died from VLCAD.
    YES newborn screening is IMPERATIVE. What cost does one put on a life may I ask?

  2. colinparker says:

    Dear “FP”
    Thank you for your comment, I really appreciate your taking the time.
    I hope that we conveyed a similar sentiment to yours, that newborn screening is vital to catch these conditions as early as possible, and thereby prevent the awful consequences of a late diagnosis (or even worse, a missed diagnosis). The catch for us, working in a system of finite resources and inexhaustible demand, is to encourage our health bureaucrats to spend the money wisely, to achieve the greatest good for the greatest number. Fortunately, we do have screening in place for a number of congenital metabolic disorders. My job is to try to educate our health professionals, and raise awareness about conditions that might otherwise slip beneath the radar…
    Thanks again for sharing

  3. FERAL POM says:

    Thank you for replying Mr Parker. I am in Australia and agree that our health professionals need education regarding metabolic disorders, especially neonatal ones. Being a “lay person” my only understanding is that some of the disorders can be picked up by the guthrie test however by the time the results eventually get through the system, as with my deceased granddaughter, it is some times too late. I would love to do something to raise the awareness – just point me in a direction.


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