Galactosemia is disease that has a mutation on the GALT gene. The protein that is produced by the gene is Galactose-1-phosphate uridylyltranserase. This disease is where the body has no GALT and can break down galactose. Galactose is a component of lactose. This causes the patients with this disease to be unable to eat foods with galactose in them.
It was first discovered in 1908 by the physician Von Ruess.
In the US, there are 284 individuals with the GALT Mutated Alleles. These alleles go with the Classic Galactosemia. Here is a 2009 study of how many patients had Galactosemia.
Galactosemia can be fatal in the newborn period if lactose is not removed from the infant's diet since there are no GALT to break down galactose. After several days of formula feeding in the hospital, newborns can develop convulsions, jaundice (yellow skin and whites of the eyes), some newborns refuse their bottles or to vomit after eating small amounts of formula. Other symptoms include: kidney failure, an enlarged liver, cataracts (clouding of the eye lens), poor growth, and intellectual disability. The enzyme GALT absence causes an infant to be unable to metabolize galactose-1-phosphate and it accumulate in liver, kidney, brain, tongue, lens, and skin.
The disease can be diagnosed. Most states test babies for galactosemia at birth because it is so fatal during newborn period. Doctors use tiny blood samples that are taken from the baby's hell. Then the test checks for low levels of the GALT enzyme. This allows for prompt treatment and can prevent the serious symptoms of this disease. If families that have a history of the disorder, the doctor can determine whether a woman's baby has galactosemia during her pregnancy. The sample can be taken from the fluid that is around the fetus or the fetal cells from the placenta.
The disease is treated through dietary restrictions. People with the disorder must stay away from foods and drinks that contain galactose, such as milk, cheese, and legumes (dried beans).
The genetic pattern of inheritance for this disorder is autosomal recessive inheritance. A child must inherit one defective copy from each parent to be able to get the disorder. One normal gene and one mutated gene makes a person a carrier. These carriers can produce less of the GALT enzyme than normal, but are still able to break down galactose. Theis causes them to avoid having symptoms of galactosemia. However, carries can pass the mutated gene to their children.
Autosomal Recessive Inheritance
Current research that is being conducted on the disease is to evaluate the clinical and molecular characteristics of patients with galactosemia. This is most frequently observed in the United States than any other place in the world.
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