Galactosemia(GALT) By Raveeja V Deshpande

What is Galactosemia? Galactosemia is a rare disorder that affects the body's ability to break down a food sugar called galactose (found in milk and other dairy products A baby with galactosemia doesn't have one of the enzymes that changes galactose into glucose. So galactose builds up in the body. This can cause damage to the brain, eyes, liver and kidneys. The damage canbe reduced by taking galactose out of the diet.

Structure of Lactose breaking in to Glucose and Galactose due to enzyme Gale

How does Galactosemia occur? Galactosemia occurs when a child inherits a defective gene from each parent. Lacking a normal copy of this gene, the child cannot make one of the enzymes necessary to breakdown galactose. There is a simple sugar called galactose where the body produces. Also there is a large sugar called lactose.

Chromosomes Ninth chromosome has GALT gene

Structure of Galactosemia

Can it be passed to future generation or is it heredity? The genetically significant mutations occur in reproductive cells and can therefore be transmitted to future generations. Natural selection acts upon the genetic diversity generated by mutation to preserve beneficial mutations and eliminate deleterious ones. It is a heredity recessive disease.

Brief History of Galactosemia Galactosemia was first discovered in 1908 by the physician Von Ruess. It was first recognized and described in detail in 1935 by Mason and Turner. Leloir worked out the metabolic pathway and the process of sugar-nucleotides and won the Nobel prize in Chemistry in 1970 for his work. The defective gene that caused it was found in 1956. It was first found to be detectable through a newborn screening method in 1963. This method was developed by Guthrie and Paigen. Galactosemia affects 1 in every 55,000 newborns.

Type of mutation The gene mutation (usually "Q188R") that causes galactosemia is inherited in what is called an autosomal recessive pattern. Galactosemia is a recessive gene.

. Where does it occur in a karyotype/chromosome/gene. Most people with galactosemia are missing an enzyme (called GALT) in chromosome To get the disorder, a child must inherit one defective gene from each parent. Galactosemia is inherited in an autosomal recessive manner, meaning a child must inherit one defective gene from each parent to show the disease. Heterozygotes are carriers, because they inherit one normal gene and one defective gene. Carriers show no symptoms of galactosemia

What is Phenotype effect ? Galactosemia is inherited in an autosomal recessive manner, meaning a child must inherit one defective gene from each parent to show the disease. Heterozygotes are carriers, because they inherit one normal gene and one defective gene. Carriers show no symptoms of galactosemia

Signs/Symptoms Teens/Adult Infants 1.speech difficulties 2.Learning disabilities 3.Ovarian failure for female Lethargy Vomiting Diarrhea Failure to thrive Jaundice

How is it diagnosed In most states, babies are tested for galactosemia at birth. Using a tiny blood sample taken from the baby's heel, the test checks for low levels of the GALT enzyme. This allows for prompt treatment, which can substantially prevent the serious symptoms of this disorder

Is it curable/How is it treated The only way to treat galactosemia is through dietary restrictions. People with the disorder must stay away from foods and drinks containing galactose, including milk, cheese, and legumes (dried beans). People who have GALT should stay away from food which have GALT. It is not cure but there are several treatments

Why did I choose this topic? And Interesting Facts It affects newborns and it is a serious genetic disorder. It was really interesting because child with this disorder can not eat milk and other dairy products There is no famous celebrity who had to suffer because of galactosemia

Other Pictures of GALT

Bilobiography-1 http://learn.genetics.utah.edu/content/disorders/whataregd/galactosemia/ http://www.doctorsofusc.com/condition/document/22824 http://www.chacha.com/question/what-type-of-mutation-causes-galactosemia http://www.state.nj.us/health/fhs/nbs/documents/galactosemia_parent.pdf

Bilobiography-2 http://www.state.nj.us/health/fhs/nbs/documents/galactosemia_parent.pdf http://learn.genetics.utah.edu/content/disorders/whataregd/galactosemia http://www.google.com/imgres?imgurl=http://ocw.tufts.edu/Content/20/lecturenotes/294518/292189_medium.jpg&imgrefurl=

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