Galactosemi Genetic Disorder

Galactosemia is a type of genetic disorder that modifies the process of breaking down galactose, a simple sugar. Galactose is essentially part of a common sugar named lactose. Furthermore, it can also be present in a variety of foods, especially in baby formulas and dairy products. “Galactosemia” is a term that represents that the blood contains too much galactose. There are several types of galactosemia, such as classic and clinical variant galactosemia (type I), galactokinase deficiency (type II), and galactose wpimerase deficiency (type III). Out of the three forms of galactosemia, type I is the most common and most severe. The signs and symptoms of this genetic disorder derives from the incapability to metabolize galactose into

Classic galactosemia “occurs in 1 in 30,000 to 60,000 newborns” (Genetics Home Reference- Galactosemia). Although galactosemia type II is not as common as classic galactosemia, type II still affects less than 1 in 100,000 babies. Moreover, galactosemia type III is an extremely rare kind of galactosemia. Galactosemia is most commonly diagnosed in the early life of infants instead of adults. Galactosemia occurs all around the world in a variety of ethnic groups. This genetic disorder, however, is mainly common in Irish people. “One in 24,000 Irish babies is born with this condition” (http://www.newbornscreening.info/Parents/otherdisorders/Galactosemia.html#16). Many testings of newborn screening in the Irish and Traveller group explained why the GALT mutation spectrum is more common than any other population in the world. After several surveys, “the incidence of classic transferase-deficient galactosemia was estimated to be in 1 in 480 and 1 in 30,000 among Traveller and non-Traveller communities” (http://www.omim.org/entry/230400). Furthermore, about fifty classic galactosemia patients were screened for GALT gene mutations. As a final result, it was discovered that Q188R, a regularly cited mutation of the GALT gene, was the sole mutant allele in both the

For instance, a person with this genetic disorder needs to be very cautious about what they eat since they can’t have anything that contains galactose. One small amount of lactose can cause the worst life-threatening complications, such as shock, lack of energy, and sepsis. Also, one of the most severe symptoms, a cataract, can occur in both newborns and adults that have classic galactosemia. Both eyes can cloud up and cause a person’s vision to become blurry. Several specific learning disabilities occur if someone has classic galactosemia. These disabilities consist of “speech and language difficulties, fine and/or gross motor difficulties, and difficulty with math or reading in school” (http://galactosemia.org/Understanding_Galactosemia.php#Complications). However, not all people who have galactosemia have a learning disability. Additionally, they also have difficulty communicating and comprehending during their daily lives, such as rambling constantly without knowing that the other person doesn’t understand and staring blankly. Females can also have reproductive issues caused by ovarian