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
Is any of this happening now?
Call 911
If you or someone you care for has a urea cycle disorder, follow the personal emergency plan during illness.
Seek emergency medical care for:
Sudden confusion, extreme agitation, or unusual behaviour
Increasing sleepiness or difficulty waking
Repeated vomiting with weakness or reduced alertness
New problems with balance, speech, or coordination
A seizure, collapse, or loss of consciousness
Abnormal breathing or rapidly worsening symptoms
Tell emergency staff about the urea cycle disorder and show them the emergency letter.
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
Is any of this happening?
Be seen today
Contact the metabolic team promptly for fever, repeated vomiting, diarrhoea, poor food intake, or difficulty taking prescribed treatment.
Early advice may prevent a crisis from becoming severe.
Do not wait for symptoms to resolve on their own or try to manage severe symptoms by making major dietary changes at home.
3
Does any of this apply?
Book an appointment
Arrange routine follow-up for concerns such as poor growth, recurring headaches, medicine side effects, increasing muscle stiffness, school difficulties, or trouble following the nutrition plan.
Pregnancy and planned surgery should also be discussed with the metabolic team in advance.
Every sign above is quoted from the sofidex article on Urea cycle disorders. If you are not sure, err upward — it is always reasonable to be checked.