NOTE:  I am currently NOMAIL, so please reply to my individual email address.

A baby in my practice has been diagnosed with DUARTE-GALACTOSEMIA.  He has
one copy of the DUARTE variant Galactosemia gene and one copy of the
classical GALACTOSEMIA gene.  He will probably produce about 5-20% of the
normal amount of enzyme.

The problem is this:

In classical galactosemia GAL-GAL homozygote, the individual cannot produce
GALT and so cannot ingest lactose without suffering serious illness and
ultimate mental deficiency.  Therefore, breastmilk is contraindicated in
these infants due to its large lactose content.

However, if, as in the case of my patient, he can produce some enzyme, could
he then safely ingest at least some breastmilk?  The endocrinologist says
that in Europe, the Duarte-Gal variants are not necessarily put on a
lactose-free diet, but that the usual custom in the USA is to use a
lactose-free diet.  He was not aware of any long-term studies that have been
published in Europe on Duarte-Gal variants.  One study quoted in the
information I have (Langley et al 1997Am J Hum Genet 60:366-72, Lai et al
1998 Hum Mut 11:28-38) states "Compound heterozygotes with this mutation
(i.e. D/G or N314D/Q188R)--{which is what my patient has}, have good
prognoses and it is not clear whether dietary intervention is required."

Does anyone on Lactnet have any experience/information about the D/G variant
of galactosemia?  Are there any studies about using full or partial
breastfeeding with these infants?

Any information you have would be appreciated.  I would like to give my
patient's mother the best possible advice.

Linda L Shaw MD FAAP
Altoona, PA

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