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Warning-sign checks

Maple syrup urine disease: 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

    Follow the personal emergency plan rather than making major dietary changes without guidance.

    Seek emergency care if a person with known or possible MSUD has:

    • New extreme sleepiness or difficulty waking
    • Confusion, unusual behavior, or poor coordination
    • Repeated vomiting or inability to keep emergency feeds down
    • Poor feeding in a newborn
    • Abnormal breathing
    • A seizure
    • Loss of consciousness

    Tell emergency staff about MSUD immediately and provide the emergency letter if available.

    A metabolic crisis can progress even when early symptoms seem mild.

    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 during fever, infection, reduced appetite, vomiting, diarrhea, or difficulty taking the usual formula.

  3. 3

    Does any of this apply?

    Book an appointment

    Routine concerns, such as food planning, stable test results, development, or preparation for travel and surgery, belong in scheduled follow-up with the metabolic team.

Every sign above is quoted from the sofidex article on Maple syrup urine disease. If you are not sure, err upward — it is always reasonable to be checked.