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Galactosemia II is caused by defects in both copies of the gene that codes for an enzyme called galactokinase (GALK). The frequency of occurrence of galactosemia II is about one in 100,000-155,000 births.

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How are galactosemia I and II treated?

Galactosemia I and II are treated by removing galactose from the diet. Since galactose is a breakdown product of lactose, the primary sugar constituent of milk, this means all milk and foods containing milk products must be totally eliminated.


The lack of which enzyme causes galactosemia?

The lack of the enzyme galactose-1-phosphate uridyltransferase (GALT) causes galactosemia. This enzyme is responsible for the breakdown of galactose in the body, and its deficiency leads to the accumulation of galactose and its toxic byproducts.


What health condition is Galactosemia?

The health condition galactosemia occurs when the body has a deficiency in processing glucose. The condition mostly affects infants and can be life threatening if not treated.


What can be treated by placing the affected individual on a restricted diet that excludes dairy products huntington disorder down syndromefaulty-enamel trait or galactosemia?

Galactosemia... the word "lactose" in this word should have given you a thoughtless answer.


Why does congenital galactosemia appear only into infants?

Galactosemia is a condition where infants have trouble digesting lactose to the point where it could harm their organs. People's systems get stronger as people age so older children are no longer affected by the condition.


What does the medical abbreviation PKU mean?

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What type of mutations causes galactosemia?

Galactosemia is primarily caused by mutations in the GALT gene, which encodes an enzyme called galactose-1-phosphate uridylyltransferase. Mutations in this gene result in reduced or absent enzyme activity, leading to the accumulation of galactose-1-phosphate in the body.


What causes Galactosemia?

Galactosemia is a very rare disease that is received through a recessive trait. It is hardly diagnosed but can also be very easily confused with lactose intolerance. Though the two can be very similar but they are very different. Galactosemia is when your body cannot process galactose and lactose intolerance is when your body cannot process lactose. Lactose and galactose can be found in generally the same food group, dairy. The very important difference between the two is that lactose intolerance causes the symptoms of gas, cramps and diarrhea and galactosemia causes excess fat to build up in the brain, cause mental retardation and finally death.


Like many genetic disorders galactosemia is a disruption of a metabolic pathway due to a malfunctioning?

Many genetic orders such as galactosemia is a disruption in a metabolic pathway. Galactosemia is a disruption in the process of breaking down galactose.


Is there a gene therapy available for galactosemia patients?

Galactosemia is a deficiency in the enzymes galactokinase or uridyl transferase, thereby affecting the synthesis and degradation of glycogen synthesis/galactose metabolism. At this point, there is no gene therapy available for treatment - treatment is only through strict dietary control.


Is there reserch into gene therapy for galactosemia?

yes


Did Mel Gibson have galactosemia?

No, Mel Gibson does not have galactosemia. Galactosemia is a rare genetic disorder that affects the body's ability to process galactose, a sugar found in milk and dairy products. There is no public information or credible sources indicating that Gibson has been diagnosed with this condition.