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Inborn Errors of Metabolism, Emergency Medicine

Reviewed 06/2017



  • Defect in the type, amount, and toxicity of metabolites that accumulate due to an inherited abnormal pathway in children; result in a variety of clinical findings; >400 human dise...


Signs and Symptoms

  • Disorders may present with either a rapid decompensation or a chronic indolent course

  • Neonates, initial presentation:

    • Asymptomatic

    • Hypothermia (mitochondrial defects)

    • Hypotonia...



  • ABCs

  • Bedside glucose

  • IV glucose infusion takes precedence over fluid boluses unless patient in shock. Correction can occur concurrently.

  • Avoid lactated Ringer solution.

  • Keep child NP...



Admission Criteria

  • Infants and children presenting with new onset of suspected inherited metabolic disease

  • Significant urinary ketones or not tolerating oral intake

  • ICU:

    • Significant a...

Pearls and Pitfalls

Watch for dehydration: 
  • Treat dehydration with normal saline fluid bolus:

    • Follow glucose level carefully; avoid hypoglycemia.

    • Use bicarbonate cautiously and only consider if pH <7....

Additional Reading

  • Alfadhel  M, Al-Thihli  K, Moubayed  H, et al. Drug treatment of inborn errors of metabolism: A systematic review. Arch Dis Child.  2013;98(6):454–461. Published Online First: ...



  • 270.6 Disorders of urea cycle metabolism

  • 270.9 Unspecified disorder of amino-acid metabolism

  • 277.9 Unspecified disorder of metabolism

  • 276.2 Acidosis

  • 271.9 Unspecified disorder of carbohydrate tr...

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