Hyperammonemia due to ornithine transcarbamylase deficiency: 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
Call emergency services or go to an emergency department if you or someone with possible or confirmed OTC deficiency has:
New confusion, severe agitation, or unusual behaviour
Marked sleepiness or difficulty being awakened
A seizure, collapse, or loss of consciousness
Repeated vomiting together with weakness or drowsiness
Poor coordination, slurred speech, or rapidly worsening symptoms
If an emergency letter or illness plan is available, take it with you.
Tell the emergency team about OTC deficiency or the possibility of hyperammonemia.
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
Do not wait for symptoms to improve on their own.
Contact the metabolic team promptly for fever, vomiting, reduced eating, or difficulty taking prescribed treatment.
This is especially important for infants, during pregnancy, after childbirth, or before surgery.
3
Does any of this apply?
Book an appointment
Routine follow-up is used to review growth, nutrition, medicines, blood results, learning, and emotional wellbeing.
New mild symptoms or problems following the management plan can usually be discussed at these visits or through the specialist team’s usual contact route.