Re: Re: Duarte Galactosemia

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This link for Understanding Galactosemia http://galactosemia.org/Understanding_Galactosemia.php. It's actually a pretty easy understanding of Galactosemia Dana Schmidt, BS, RN, IBCLCCradlehold, DirectorBreastfeeding Education & Supportwww.cradlehold.netProviding the minimum amount of intervention for the minimum amount of time for maximum benefit to mother and baby We do not seek to establish any professional relationship with any person or entity as a result of any visit to this Website. Transmission of the information is not intended to create and receipt does not create, a doctor-patient or other professional relationship between you and any medical

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So first I have to tell you that I am not a genetics counselor. With that being said, I can tell you this.

DG Galactosemia is NOT Classic Galactosemia. The DG stands for one copy of the Duarte (milder Galactomemia) and one copy of the Classic Galactosemia gene. What this means that is that the baby has at least 25% enzyme activity to break down galactose/lactose found in breastmilk (in this case). Babies with Classic Galactosemia have less than 5% activity and are quite ill within the first few days of life from the build-up of toxins (jaundice not otherwise explained, e. coli sepsis, etc). There are metabolic physicians who are comfortable with allowing babies to remain on breastmilk with DG Galactosemia as long as they are clinically well and do not have critically elevated Gal-1-P levels. There are some that are not. In that case, it is recommended that the baby remain on soy formula for the first four months of life. After that time, a breast milk challenge is done to see if the baby's liver is mature enough to metabolize the Gal-1-P. A

breastfeeding mother is advise to pump and store until that.

Summer heat can affect newborn screening cards so you may get many false positives during this time. Still it is very important to follow up with a metabolic specialist before advising your client about the removal or continuation of a breastmilk diet. Should your client receive news that their baby had a positive Newborn Screen, remember that this must be CONFIRMED by metabolic testing as the newborn screen is just that - a SCREEN.

To read more about Galactosemia:

Newborn Screening ACT Sheet

[Absent/Reduced Galactose-1-Phosphate Uridyltransferase

(GALT)]

Classical Galactosemia

and

Understanding Galactosemia

Mom reducing her intake of lactose will not benefit the baby. Remember, lactose and galactose are in breast milk and cow's milk so soy formula is recommended for a complete elimination in the diet.