Inborn Errors of Metabolism

Metabolic crisis · ED bedside calculator

Example: 4 kg neonate. Enter the real weight.
Entry

Known or suspected?

Suspect an inborn error when you see

  • Newborn with ill-appearance / sepsis
  • Unexplained hypoglycemia
  • Unexplained metabolic acidosis
  • Hyperammonemia
  • Abnormal newborn screen
  • Poor feeding
  • Seizures
Step 1

Resuscitation

  1. To Resus, cardiac monitoring

    Both known and suspected patients converge here.

  2. Obtain immediate IV access & blood glucose

    Point-of-care glucose at the bedside — do not wait for the lab.

  3. Send the crisis labs before treatment changes them

    Glucose, blood gas, electrolytes with anion gap, ammonia (free-flowing, on ice, run within 30 min), lactate, LFTs, CK, urine ketones; save plasma and urine for amino acids, acylcarnitine profile and organic acids.

Step 2

Doses at this weight

Run rate — D10 ½NS (+ 20 KCl once voiding)
24.0 mL/hr
Maintenance 16.0 mL/hr × 1.5. Give this rate.
D10W bolus — hypoglycemia
20.0 mL
5 cc/kg, in addition to maintenance fluids.
NS bolus — dehydration
80.0 mL
20 cc/kg, as needed.
How the rate is built

Step 3

Glucose & ammonia

Blood glucose

Enter Awaiting glucoseHypoglycemia is < 60. Target 70–150.

Recheck Q30 min until stable × 2.

Ammonia

Enter Awaiting ammoniaAggressively treat hyperammonemia.
Known Dx

Treatment information

Step 2 of the Known arm is “obtain treatment info.” Acute illness management is summarised here from public protocols so you are not hunting for them at 3 a.m. Weight-based figures are computed at 4.0 kg.

Step 4

Expert consultation

Known patient

Call their metabolic / biochemical genetics team

Number is usually on the patient’s emergency letter.

No specialist yet

Call the nearest metabolic centre on call

Do not wait for confirmatory results to start treatment.

Disposition

Involve expert consultant. Transfer if patient requires ICU level care.