Classic Galactoseimia Elizabeth Herald - Pd. 7/8

What is Classic Galactosemia? - Galactosemia is a genetic disease that affects the way the body processes the lactose and galactose sugars.

What is the gene that mutates to cause the disease and what si the protein produced? - In this version of galactosemia, the GALT gene mutates by eliminating the enzymes produced. The protein produced from the GALT gene is galactose-1-phosphate uridylyltransferase

When was the disease first discovered and how many people does it affect? - 1908 by Von Ruess and about 1 in every 30,000 to 60,000 newborns. It does not affect a certain ethnicity.

What are the symptoms of the disease, how is it diagnosed and treated? - Infants with Classic Galactosemia have little energy, failure to thrive, little to no weight gain, yellowing of skin and eyes, liver damage, abnormal bleeding, sepsis and shock. In the long term, it can cause delayed development, cataract formation, and intellectual disabilities. In females, it can cause the lose of reproduction purposes. Blood test to test for reduced GALT activity and elevated erythrocyte galactose-1-phosphate count. The child must be on a VERY strict no dairy/lactose diet.

Example of jaudice in babies

What is the prognosis of a patient with the disease and what is the genetic pattern of inheritance - If the disease is caught early, the patient can live a long and healthy life with the diet restrictions and it is a autosomal recessive gene.

What research is being conducted? - There is no current research for treatment found.

Works Cited

Berry, Gerard T. "Classic Galactosemia and Clinical Variant Galactosemia." National Center for Biotechnology Information, US National Library of Medicine, 3 Apr. 2014, Accessed 1 Feb. 2017.

Ever, Greatest. "New Galactosemia." Prezi, Prezi Inc., 9 Dec. 2012, Accessed 5 Feb. 2017.

"Galactosemia." Genetics Home Reference, US National Library of Medicine, 31 Jan. 2017, Accessed 31 Jan. 2017.

"Galactosemia." National Organization for Rare Disorders, 2015, Accessed 31 Jan. 2017.

Galactosemia. Screening, Technology and Research in Genetics, HRSA/MCHB, Accessed 5 Feb. 2017. The process of how the body produces lactose.

Galactosemia. University of Chicago, Accessed 5 Feb. 2017.

"GALT gene." Genetics Home Reference, US National Library of Medicine, 31 Jan. 2017, Accessed 31 Jan. 2017.

The GALT Gene. Genetics Home Reference, US National Library of Medicine, Accessed 5 Feb. 2017.

Jaundice baby. Think Link, Accessed 5 Feb. 2017.

"What Is Galactosemia." Galactosemia Foundation, Accessed 1 Feb. 2017.


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