What to do with a metabolic kid


    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)


    • 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


    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.

    • Welcome! This is the website for the Mount Sinai Emergency Ultrasound Division. It serves as an information resource for residents, fellows, medical students and others seeking information about point-of-care ultrasound. There is a lot ofRead more

    • To bicarb or not to bicarb

      When, if ever, should we be giving bicarbonate in patients with metabolic acidosis? A study published in The Lancet in July 2018 involved a multicentre RCT in 26 ICUs with 400 patients, called the BICAR-ICURead more

    • PTSD in EM Residents

      Winter is here. It’s colder. Sometimes we don’t see the sun for days. Let’s take a moment to think about some mental health issues. Published in Annals of Emergency Medicine in December 2017 was a piece byRead more

    • Foot vs Bus

      In a totally hypothetical situation, imagine a resident’s foot got run over by a bus and looked like this after arriving in your ED… What sort of things should you be concerned about in injuriesRead more

    • The Golden S Sign

      Shoutout to the awesome David Cisweski for following up this tidbit from conference and giving us this pearl. Remember in conference when Dr. Jacobi was going over chest X-rays, was talking about the Golden S sign, andRead more

    • SVT and Paranasal Etripamil

      Have you had one of those resus shifts where everyone and their mother seems to be in an arrhythmia? Have some of them been older patients with SVT that just make you a little antsyRead more

    • Air Pollution and Stroke?

      One growing global health issue is ambient air pollution. One of the leading risk factors for disease is fine particulate matter in outdoor air. The WHO states 1 in 8 deaths is due to airRead more

    • Nursemaid’s Elbow Reduction

      Radial head subluxation, more commonly known as nursemaid’s elbow, can be seen more frequently in the pediatric population. Imagine a parent quickly pulling a child’s arm (usually 1-4 years old) that was held in extensionRead more

    • Tis the season – for rhinosinusitis

      It’s an intake shift and yet another person comes in saying, “I feel congested doc. I need antibiotics for sinusitis.” A recent Cochrane review published in September 2018 that included 15 trials involving 3057 patientsRead more