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Warning-sign checks

Inborn errors of metabolism: when to get help

Go through these in order and stop at the first one that applies. If you are reading this for someone else, answer for them.

  1. 1

    Is any of this happening now?

    Call 911

    If you have a diagnosed metabolic condition, follow your personal emergency plan during illness.

    Call emergency services for a seizure lasting longer than expected, loss of consciousness, severe breathing difficulty, or if the person cannot be woken normally.

    Show emergency staff any metabolic emergency letter or medical alert information.

    Other emergency signs, for anyone
    • Someone who is struggling to breathe, gasping, choking, or cannot get words out
    • Someone who has chest pain, tightness or pressure lasting more than a few minutes
    • Someone who has sudden weakness or drooping on one side of the face or body, slurred speech, or sudden confusion
    • Someone who is unconscious, or cannot be woken
    • Someone who is bleeding heavily and it will not stop with firm pressure
    • Someone who has had a seizure that will not stop, or does not wake up afterwards
    • Someone who has lips or skin that look pale, blue, grey or blotchy
    • Someone who you believe has taken an overdose or swallowed something poisonous
  2. 2

    Is any of this happening?

    Be seen today

    Contact the metabolic team promptly if you are vomiting, cannot keep prescribed food or fluids down, are eating much less than usual, or have signs of infection.

    Do not wait for severe symptoms if the plan says to seek help earlier.

    Seek urgent medical assessment for repeated vomiting, worsening weakness, unusual behaviour, new confusion, marked drowsiness, or rapid breathing.

    A baby who is difficult to wake, feeds poorly, repeatedly vomits, has breathing changes, or seems seriously unwell also needs urgent medical assessment, whether or not a metabolic condition is known.

  3. 3

    Does any of this apply?

    Book an appointment

    Arrange routine follow-up for new but stable concerns such as increasing tiredness, reduced exercise tolerance, changes in movement, difficulty with the prescribed diet, or concerns about growth, learning, or treatment side effects.

Every sign above is quoted from the sofidex article on Inborn errors of metabolism. If you are not sure, err upward — it is always reasonable to be checked.