I know it's been awhile for this topic, but I found out some new (to me at
least) information on galactosemia and breatfeeding at the Fall ACOP
conference this weekend. The up-shot was: even with a positive galactosemia
newborn screen, there may be some level of enzyme activity occurring, and so
this may allow some degree of breastfeeding. So perhaps, with a positive
galactosemia screen, you may want to clarify the type/degree of enzyme
activity before allowing the mother's milk supply to dry up. If I'm too
vague or obviously wrong or if others know more about this, please please
please correct me!

There are 4 genotypes possible for a baby:

1) normal: normal genes with normal enzyme activity (no galactosemia, normal
test unless there were insufficient feeds or inactivated enzyme from heat
exposure-- blood sample on blotter paper mailed to state lab on a hot day)

2) carrier for galactosemia: one normal gene with normal enzyme activity and
one galactosemia gene with no enzyme activity (this results in 50% of enzyme
activity, this partial enzyme activity allows the baby to process limited
amounts of galactose; if breastfeeding, the baby would need blood tests to
be sure the galactose-1-phosphate levels did not get too high)

3) D/G varient (sorry, I'm not sure what D & G stand for as I was paying
more attention to my daughter than to the speaker at this point): this
genotype has 25% of the enzyme activity. ??? possible partial breastfeeding
here too???

4) classic galactosemia: no enzyme activity at all for processing galactose
and so no breastfeeding; baby needs galactose-free ABM (for which a simple
lactose-free ABM is not recommended because it does contain small amounts of
galactose; a soy formula or elemental formula was recommended).

I hope this is useful information even if I'm vague in conveying it. Since
the above information came fairly directly from the syllabus, I want to
credit the speaker: Cynthia Tifft, MD, PhD. I believe she is from Children's
National Medical Center in Wash. DC and is the chairperson of the Dept of
Medical Genetics there.

Mari Douma, DO, FACOP, FAAP