What is Duarte Galactosemia?
Duarte Galactosemia is a variant of classic galactosemia. Fortunately, all the severe complications associated with classic galactosemia are all not associated with Duarte galactosemia. The child with Duarte galactosemia inherits a gene for classic galactosemia (G) from one parent, and a Duarte variant gene (D) from the other parent. Patients with this genetic make-up are frequently referred to as D/G galactosemics.
Diagnosis of Duarte galactosemia is made usually within the first weeks of life by the same blood test used to diagnose classic galactosemia. Galactose-1-phosphate uridyltransferase (GALT) enzyme activity in D/G patients is approximately 25%-50% of that found in children born with no galactosemia gene.
There is some disagreement over the need for dietary restriction in the treatment of children with Duarte galactosemia. The reason for disagreement is the lack of information getting to doctors, Pediatrician doctors not working closely with the Galt community and/or area metabolic specialist, low amount of Pediatricians attending Galactosemia Conferences, and the lack of knowledge in regard to the newest research. Parents are reminded that galactosemia patients are a minority when seen by doctors, so many doctors are not willing to spend the extra research time until more of their patients are affected by the the condition. This is very common in the rare disease community. Please see NORD website to see the issue as a whole. Consult your medical advisors (preferably a pediatric metabolic geneticist) for their advice on this topic.
Dietary Options include :
-restricting lactose / galactose in the diet for a year or so then gradually introducing these items and testing for the patient's response (i.e. elevation of galactose-1-phosphate (Gal-1-P) levels in patient's blood).
-no restrictions at all, to include breastfeeding infants-(Recommendation before 2004)
-restricting for life on the "UK Diet" (Commonly used for Duarte in the UK)-no dairy products til the child is 2 yrs of age, then after the child has no cold dairy for life but has dairy that has been cooked in food products (preferably up to 165 degrees to break down the whey). This is called the "better safe than sorry approach" many DG parents are taking because of the lack of research.
(Most common approach since 2004)
See DIET PAGE for recommendations
http://www.ncbi.nlm.nih.gov/pubmed/25681083 February 2015
Data demonstrated some notable differences between cases and controls in socio-emotional development, in delayed recall, and in auditory processing speed. These results confirm that direct assessment of school-age children with DG can detect subtle but potentially problematic developmental deficits, and underscore the need for a larger study which has sufficient power to evaluate these outcomes while controlling for potentially confounding factors.
http://www.ncbi.nlm.nih.gov/books/NBK258640/ December 2014
Infants with Duarte variant galactosemia who are on breast milk or a lactose-containing formula are typically asymptomatic. However, anecdotal patient reports suggest that some infants with Duarte variant galactosemia may experience jaundice or other acute manifestations that resolve following removal of milk from the diet.
In contrast, a study assessing developmental outcomes of older children with a diagnosis of Duarte variant galactosemia (also confirmed by GALT enzymatic activity and GALT molecular genetic test results) reported that by mid-elementary school these children were more than twice as likely as their peers to receive special educational services for speech and/or language [Powell et al 2009], implying the possibility of relatively increased risk of developmental difficulties in this population.
http://www.nature.com/gim/journal/v11/n12/full/gim2009134a.html May 2009
Results: Of the 59 eligible children, none were found to have intellectual disability, cerebral palsy, hearing loss, vision impairment, or an autism spectrum disorder. However, five, 8.5% of 3 to 10 years or 15.2% of eligible 8 years, were identified as having received special education services, four of whom were confirmed with a speech or language disorder, or were receiving services for speech or language or both compared with 4.5% and 5.9% of children without Duarte galactosemia, respectively.
Conclusions: Despite galactose restriction until 1 year, select developmental issues associated with special education, specifically involving speech and language, have been found among some children with Duarte galactosemia.
http://www.health.state.mn.us/divs/cfh/topic/diseasesconds/duartegalact.cfm Some states recommend restricted diet or a limited diet
Discuss lack of info available to doctors and because of this controversy, several newborn-screening programs do not recommend any restriction of dietary galactose, whereas others recommend full or partial restriction of dietary galactose for at least the first year of life. This situation has caused confusion and consternation for parents and metabolism specialists. For those newborn-screening programs that recommend initial limitation of dietary galactose, substantial numbers of parents and their DG newborns must be located and brought to a metabolism center to receive nutritional and genetic counseling about the distinction between classic galactosemia and DG. These programs usually recommend that children with DG limit their feeding with breast milk or cow’s milk formula and replace it with a soya-based or a galactose-free infant formula.
http://www.ncbi.nlm.nih.gov/books/NBK258640/ Dec 2014 Research Project thru Emory Genetics
This project's goal was to show that DG have a need for research and that currently parents are lacking info from doctors.
Despite galactose restriction until 1 year, select developmental issues associated with special education, specifically involving speech and language, have been found among some children with Duarte galactosemia.
The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts.
These results confirm that direct assessment of school-age children with DG can detect subtle but potentially problematic developmental deficits, and underscore the need for a larger study which has sufficient power to evaluate these outcomes while controlling for potentially confounding factors.
States the allele responsible for DG
The marked abnormalities in the ability to dispose of ingested galactose raise questions concerning appropriate dietary recommendations for such children.
DG Son- Jackson
It's been a confusing road so far but I'm so thankful for my perfect little boy. It started with an unplanned c-section 15 months ago, doctors said he was jaundiced and that that's very common & they sent us home (I was breastfeeding), the day after we got home we saw the pediatrician, he sent us back to the hospital saying his level of jaundice is not common and he needed to go to the NICU right away. I was terrified. So we went....his bilirubin was high plus they discovered high sodium levels as well. We stayed at week in the NICU (I gave him breast milk the entire time) but on the final day, the day we were finally to go home with our new baby boy we were given the news he had Galactosemia and that I was to stop breastfeeding right away, I'd never even bought bottles as this was my plan to breastfeed his first year of life, I'd never even heard of Galactosemia, so of course I Googled and cried my eyes out, a few weeks later we were told he is DG...fast forward 3 months later after seeing a metabolic geneticist who tried to get us on board with the milk challenge...I then went to a new doctor who said he needed no restrictions, I tried to get my milk back, even went on a prescription to do so...it didn't work, we stuck with Nutramigen formula, at around 10 months we introduced cheese yogurt etc. listening to the no restrictions advice. Two months later he was constantly vomiting, he'd always been a "spitter upper" but now this was vomiting chunks of food....I decided to ignore the Dr's advice figuring something was wrong. I went on the DG FB pg, did more research and decided to move to the UK diet....the spitting up stopped, no more vomiting. He is finally okay. I knew we made the right decision. It's been scary but I finally feel like we're really doing what's best for him. He's healthy, meeting all his milestones on time even ahead of schedule. He's happy and healthy, that's all my husband and I wanted.