What to do with a metabolic kid

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    What to do with a metabolic kid

    Ornithine transcarbamylase deficiency, citrullinemia, methylmalonic acidemia, tyrosinemia, phenylketonuria, Galactosemia… did I lose you yet? These words bring me back to the dark place of step one studying. So take a deep breath, don’t worry about the big words and here are a couple of tips next time you have a “metabolic kid” in the peds ED.

    Four Tests to Rember:

    • Lactate — can indicate metabolic crisis
    • Respiratory alkalosis — suggests an exogenous drive for hyperpnea, that can be caused by toxic levels ammonia which directly stimulate the respiratory center
    • UA for ketones — high when in metabolic crisis or absence in the setting of hypoglycemia
    • Ammonia — greater than 200 = yikesville!

    Manifestations of metabolic crisis:

    • Neurologic: irritability/lethargy, vomiting, hypotonia, seizures. 
    • Tachypnea from metabolic acidosis and hyperventilation from hyperammonia
    • Vomiting

    Comprehensive diagnostic testing options:

    • Venous blood gas
    • Blood sugar
    • Comprehensive metabolic panel
    • Clotting studies
    • Ammonia level (heparinized tube on ice)
    • Urinalysis
    • Plasma amino acids (heparinized tube on dry ice)
    • Urine organic acids, orotic acids, and amino acids (on ice)
    • Plasma-free and acylcarnitines (heparinized tube)
    • Urine-reducing substances (on ice)

    Treatment

    • Provide energy while shutting down catabolism
      • hypoglycemia can cause irreversible neurologic damage
    • Correcting electrolyte and/or acid base imbalances
    • Remove toxic metabolites
      • sodium benzoate, sodium phenylacetate (Ammonul), arginine hydrochloride –> ammonia elimination in the urine
      • if ammonia >500 –> hemodialysis

    References:

    MacNeill, EC et al. Inborn Errors of Metabolism in the Emergency Department (Undiagnosed and Management of the Known) Emergency Medicine Clinics of North America, 2018-05-01, Volume 36, Issue 2, Pages 369-385.

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