Hereditary urea cycle abnormality: 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
Is any of this happening now?
Call 911
Seek emergency medical care if someone with a known or suspected urea cycle abnormality develops:
New confusion, extreme sleepiness or unusual behaviour
Repeated vomiting with worsening alertness
A seizure, collapse or reduced consciousness
Trouble breathing or severe loss of coordination
Tell emergency staff about the risk of hyperammonemia and show them the metabolic emergency plan if one is available.
A person with altered consciousness should not be given food, drink or oral medicine because of the risk of choking.
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
If you have a diagnosed condition, contact your metabolic team promptly during fever, vomiting, poor intake or before a planned operation.
Follow the personalised illness plan rather than making major protein or medicine changes yourself.
And for anyone, someone who:
has a wound that is hot, spreading red, or leaking pus
3
Does any of this apply?
Book an appointment
Routine appointments are appropriate for stable concerns such as diet questions, medicine side effects, growth changes, school difficulties or planning for pregnancy and travel.
Every sign above is quoted from the sofidex article on Hereditary urea cycle abnormality. If you are not sure, err upward — it is always reasonable to be checked.