Galactosemia report

Galactosemia

Corbin Hoffman

My genetic disorder project is on Galactosemia. The actual disorder is not as fun as the name is. There are several types of this disorder, and  Galactosemia type 2 causes less issues than the normal or "classic" type. Mutations in the GALE, GALKI, or GALT genes create Galactosemia. 
     The disorder is an autosomal recessive disease that affects how the body proccesses sugar. Or, more specifically, the sugar galactose. This is an important sugar found in things such as dairy products, and occasionally, baby formula. 
     If babies don't have a low galactose diet, they will have bad things happen. Things such as: feeding problems, lack of energy, low growth, yellowing of skin and eyes, and liver problems. If these problems occur in a baby, they could have Galactosemia(this is a way to tell if they have Galactosemia). Children with Galactosemia may develop slower. Females with this disorder may experience reproductive issues.
     Tests for this disease include: Blood culture for bacteria infection, Enzyme activity in the red blood cells Ketones in the urine ,Prenatal diagnosis by directly measuring the enzyme galactose-1-phosphate uridyl transferase ,"Reducing substances" in the infant's urine, and normal or low blood sugar while the infant is being fed breast milk or a formula containing lactose
      
      Living with Galactosemia can be normal, if you avoid dairy products completely. Even so, people with this condition may develop minor mental problems. If you eat dairy products, life will not be normal, as it won't exist at all for you. There is an association for Galactosemia foundation supports it.

     Discovered by 1908 by Von Ruess. Named after the sugar Galactose, found in milk.
Other names include:

• Classic Galactosemia
• Epimerase deficiency galactosemia
• Galactokinase Deficiency Disease
• Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
• Galactose epimerase deficiency
• GALT Deficiency
• UDP-Galactose-4-Epimerase Deficiency Disease
• UDPglucose 4-Epimerase Deficiency Disease
• UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency
• UTP Hexose-1-Phosphate Uridylyltransferase Deficiency

    

SOURCES:
 http://ghr.nlm.nih.gov/condition/galactosemia
http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm
http://galactosemia.org/Understanding_Galactosemia.php