Galactose-1-phosphate uridyl transferase 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
Seek emergency care for a baby with possible or confirmed GALT deficiency who has:
Difficulty waking, unusual limpness, or reduced responsiveness
Poor feeding with repeated vomiting
Yellow skin or eyes with worsening illness
Fever, abnormal temperature, or concern for infection
Breathing difficulty
Seizures
Unusual bruising, bleeding, or a swollen abdomen
These signs may indicate sepsis, liver dysfunction, low blood sugar, or another serious newborn illness.
A small accidental exposure is not always an emergency, but the established care plan should be followed.
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
A newborn needs urgent same-day medical assessment if newborn screening suggests galactosemia.
Follow the screening team's feeding instructions while confirmatory tests are arranged.
For someone already diagnosed, contact the metabolic team promptly after a major accidental milk exposure, especially if vomiting or illness develops.
3
Does any of this apply?
Book an appointment
Discuss concerns about growth, diet, speech, school progress, coordination, tremor, puberty, periods, bone health, fertility, or emotional wellbeing at routine appointments.