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Warning-sign checks

von gierke 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 whenever food or cornstarch cannot be kept down.

    Seek emergency help for:

    • A seizure, loss of consciousness, or severe confusion
    • Low blood glucose that does not improve as directed
    • Inability to take or keep down the planned carbohydrate
    • Extreme drowsiness, unusual behaviour, or difficulty waking
    • Rapid or deep breathing with worsening illness

    Use the person’s specialist emergency instructions and tell emergency staff that intravenous glucose may be needed.

    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

    Vomiting or diarrhoea can become urgent quickly because the body cannot rely on stored glycogen in the usual way.

    Contact the metabolic team promptly for repeated low readings, a change in usual fasting tolerance, persistent vomiting, or problems with feeding equipment.

    People with GSD Ib should seek prompt advice for fever, spreading skin redness, worsening mouth sores, severe abdominal pain, or bloody diarrhoea because neutropenia can make infections more significant.

  3. 3

    Does any of this apply?

    Book an appointment

    Routine appointments are the right place to discuss growth, puberty, diet, exercise, medication effects, or gradual changes in liver or kidney tests.

The article also says

Do not give food or drink to someone who is unconscious or unable to swallow safely.

Standard glucagon rescue may not work normally in GSD I because the liver cannot complete glucose release.

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