Galactosemia


Description:
When a person has galactosemia, their enzymes are unable to break galactose down, which can be found in food such as dairy products. If galactose is consumed, their blood will get clogged. This will eventually lead to major problems (which are listed in the symptoms section) if the proper precautions are not taken.

Inheritance:
Galactosemia is autosomal recessive, so both parents must be a carrier in order for their child to inherit the disease. To be a carrier, the child must inherit one normal gene and one mutated gene. Carriers can live without symptoms of galactosemia, but they don’t have a perfectly normal amount of GALT enzymes, like people with the disease. Offspring can get the mutated gene from a parent that is a carrier.

Symptoms:
· Kidney failure
· Enlarged liver
· Cataracts
· Poor growth
· Mental retardation
· Speech and language problems

Daily Life:




Diagnosis:
During pregnancy, a doctor can take a sample of the fluid from the fetus to diagnose galactosemia. Another option is for a doctor to take a sample of fetal cells from the placenta. At birth, a doctor can diagnose the disease by taking a blood sample from the baby’s heel.

Treatment:
The only way to ensure that galactose does not build up in the blood of people with the disease is to refrain from consuming food containing galactose. This means that legumes, milk, cheese, and other dairy products cannot be eaten. Also, students with learning disabilities should have a special education adjusted to their abilities.

Research:
Universities and scientists have tried to learn as much about galactosemia as possible in order to help them find a cure to it (there currently is no cure). Researchers of the Kresge Eye Institute tested to see if adding aminoguanidine to rats with galactosemia made a positive effect. Additionally, the University of Miami held a universal screening for metabolic disorders to expand universal newborn screening to test for galactosemia.

Additional Facts:
Approximately one person in 55,000 births is born with galactosemia. These people can 9and usually do live as long as any normal person if they refrain from eating galactose. People all over the world can get this disease, but many Irish people get it. Approximately one person in 24,000 births is born with this disease in Ireland. Galactosemia is also called GALT. Seventy-five percent of infants with GALT will die if not treated.

Punnett Square:


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Pedigree Chart:

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Resources:

Galactosemia Information from the University of Utah
http://learn.genetics.utah.edu/content/disorders/whataregd/galactosemia/index.html

Information Regarding Galactosemia from the Liver Foundation
http://www.liverfoundation.org/abouttheliver/info/galactosemia/

Q&A from the Minnesota Department of Health
http://www.health.state.mn.us/divs/fh/mcshn/ncfu/cond/galt.htm