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Galactosemia is an enzyme deficiency that can severely affect newborns.
Classic Galactosemia is a rare genetic metabolic disorder. The child with classic galactosemia inherits a gene for galactosemia from both parents, who are carriers. Patients who inherit the classic galactosemia gene from each parent are sometimes described as having the genetic makeup "G/G". Normally when a person consumes a product that contains lactose (e.g., dairy products such as milk, cheese, butter), the body breaks the lactose down into galactose and glucose. Glucose is the sugar used by the body for energy. Galactosemia means too much galactose in the blood caused by the individual "missing" the enzyme (known as GALT) to convert galactose into glucose. This accumulation of galactose is a poison to the body and can cause serious complications such as the following and if untreated, as high as 75% of infants will die:
- enlarged liver
- kidney failure
- cataract
- brain damage
Diagnosis is made usually within the first week of life by blood test from a heel prick as part of a standard newborn screening. Treatment requires the strict exclusion of lactose/galactose from the diet. Although galactosemic children are started on diet restriction at birth, there continues to be a high incidence of long-term complications involving speech and language, fine and gross motor skill delays and specific learning disabilities. Ovarian failure may occur in girls. Prenatal diagnosis by amniocentesis is also available.
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What else can I help you with?
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.
What causes galactosemia II?
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.
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.
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.
With galactosemia what does the Los Angeles gene refer to?
the city
When was Galactosemia found?
it was found in 1908 by Von Ruess
What type Galactosemia is sever or most sever?
sever type1 classic is the most sever type,....... sever type1 (classic): galactosemia is the most sever galactosemic disorder
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.
Are there any famous people that havehad galactosemia?
Mel gibson
