Galactosemia by Maureen Schleeper

Galactosemia is a rare genetic disorder that affects the body’s ability to break down the simple sugar galactose.  Galactose is unable to be broken down due to mutations in three specific genes: GALE, GALK1, and GALT.  These genes prevent the body from producing the enzymes needed to metabolize galactose into glucose for energy production.  Although there are small amounts of galactose produced by the body, it mostly is found in dairy products within a larger sugar known as lactose.


Through the breaking down of lactose, galactose is produced.  Galactosemia is characterized as an autosomal  recessive pattern.  This means  in order to transmit galactosemia, both parents must pass on a non-working copy of the gene to the child.  Before 2004, there was no way of knowing if a parent carried this recessive gene until a child was diagnosed with the disorder.  If only one parent has a non-working copy of this gene, the child can also carry a non-working copy of the gene, but show no symptoms of the disease.  This is due to the fact that the normal gene takes over and masks the mutated gene.  The normal gene will produce enough of the enzyme needed for the breaking down of galactose and this step is not interrupted.

Since 2004, testing for galactosemia is part of all newborn screenings.  Due to newborn screenings, this disease can be diagnosed and treated immediately after birth.   Gone untreated, galactosemia can cause many complications that are life threatening.  If an infant were to go undiagnosed and untreated,  galactose would build up within days of birth causing damage to the liver, kidneys, brain, and eyes.  Symptoms of an infant with the disease would be vomiting, feeding difficulties, failure to gain weight, and jaundice.  Even severe bacterial infections and shock are possible.   As many as 3 in 4 babies with galactosemia, that have gone undiagnosed and untreated, die within two weeks of life. 

Although there is no known cure for galactosemia, if discovered and treated properly, most children can live a somewhat normal life.  Some children, even with the avoidance of dairy products, still may have speech problems, lower IQ levels, and in girls, ovaries that do not function.  Nutritional concerns arise in individuals with galactosemia because of the avoidance of all dairy products in their diet.  Infants can be fed soy or other lactose free formulas.  As the child grows, parents or caregivers must be aware of all foods that contain lactose (galactose).  Many medications use lactose as filler and must be avoided.  Since milk is the main source of calcium, calcium must be supplemented as well.  There are many listings available to parents or caregivers that show foods that contain lactose.

Although galactosemia can be a deadly disease, with the advancement of technology, parents can now be tested for the recessive gene.  Since some parents may be unaware of this disease, children are now diagnosed immediately after birth as well, thus avoiding long term damage to the brain and internal organs.

 

Works Cited

“Galactosemia.” Answers.com.   Ed. American Heritage Dictionary.  Answers,  2012.  Web 25   Mar.  2012. <http://answers.com/topic/galactosemia>.

“Bing Health.”  Bing. Ed. Natural Standard Research Collaboration. 2010.  Web 25 Mar.                2012.  <http: //www.bing.com/health/article/natural standard-NSgalactosemia/Galactosemia>.

“Galactosemia.” – Genetics Home Reference. Ed.U.S. National Library of Medicine U.S. National Library of Medicine, 19 Mar. 2012. Web. 25 Mar. 2012 http://ghr.nlm.nih.gov/condition=galactosemia.