A 13 month baby with galactosemia

[Patricia Hatherly]

I'm not sure that I understand the amylase connection as that's basically a
starch digesting enzyme.
If this is truly a case of galactosemia (very rare: 1/60,000 births) then
it's basically a deficiency of galactose-1-phosphate uridyltransferase which
means that the infant cannot metabolise galactose.This means that milk (and
especially human milk which is HIGH in lactose)which splits into glucose and
galactose, is unsuitable for the infant with such a deficiency.
It is potentially a fatal condition if not managed appropriately by weaning
from the breast and feeding with a specially pre-digested formula.

Recent reports indicate that breastfeeding MAY proceed (partially) if the
mother expresses all her foremilk and offers only hindmilk to the baby and
s/he is supplemented with appropriate enzymes.

The usual presenting signs are prolonged jaundice accompanied by vomiting
and diarrhoea leading to weight loss and electrolyte imbalance.

Dr Sattar could we have some specifics of this case please as the infant
will certainly be assisted with the condition but not in a routinist way.

regards
Patricia Hatherly

Liz said: