GalactosemiaBy: Mahum Farooqui

Picture of Chromosome

Location of galactosemia gene

All About It

Galactosemia is a condition in which the body is unable to use the simple sugar galactose which is mostly in milk.

The exact name for this gene is Classical Galactosemia.

The protein that is coded for by this gene is called GALT (galactose-1-phosphate uridylyltransferase).

Symptoms Jaundice (yellowish discoloration of the

skin and the whites of the eyes)

Vomiting

Poor weight gain

weariness

Irritability

Seizures

Treatment

The Treatment for Galactosemia is the removal of galactose from your diet. All lactose products must be totally avoided. Milk and milk products contain the most amount of lactose; however it is also present in other foods such as legumes, organ meats and processed meats.

Infants will need to be fed with food that is lactose free such as soy formula, meat-base formula, or Nutramigen (a protein hydrolysate formula)

There is no definite cure for Galactosemia, the condition is life long and it can only be controlled. Doctors advise a calcium supplement for patients with Galactosemia as Milk is an important source of calcium for a growing child.

Inheritance

Galactosemia is an autosomal recessive trait.

This disorder won’t affect lifestyle that much; it’s only the avoidance of milk products that has influence on one’s life.

Medical research for Galactosemia including cure, prevention, diagnostic, and basic research. Medical treatments are quickly being found and galactosemia patients can look forward to a brighter future.

More Interesting Facts

Galactosemia occurs in about 1 in 50,000 births, mainly Caucasians.

This is a pedigree showing the transmission of galactosemia.

Find Out More!

For more information on this genetic disorder, go to:

www.galactosemia.org

http://learn.genetics.utah.edu/content/disorders/galactosemia/

Also visit Parents of Galactosemic Children, Inc. (PGC) which is a national, non-profit, volunteer organization

Works Cited

Parents of Galactosemic Children, Inc. Web. 16 Apr. 2011. <http://www.galactosemia.org/>.

Corral, Neville B. "Galactosemia." UW Departments Web Server. Web. 16 Apr. 2011. http://depts.washington.edu/transmet/gal.html

Beckette, Michelle. "Galactosemia - Symptoms, Diagnosis, Treatment of Galactosemia - NY Times Health Information." Health News - The New York Times. Web. 16 Apr. 2011. <http://health.nytimes.com/health/guides/disease/galactosemia/overview.html>.

O'Ciensas, Cori. "Galactosemia: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. Web. 16 Apr. 2011. <http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm>.