0
Caused by defects in both copies of the gene that codes for an enzyme called galactose-1-phosphate uridyl transferase (GALT). There are 30 known different mutations in this gene that cause GALT to malfunction.
Wiki User
∙ 13y ago
Add your answer:
Earn +20 pts
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?
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.
What is the probability that the next two children will both be affected with galactosemia?
A) 1/16
What is galactosemia?
Galactosemia is a rare genetic metabolic disorder, in which an individual (usually an infant) lacks the enzyme GALT, which breaks down the sugar galactose in the body. Since galactoseis produced by the breakdown of lactose (in milk) into glucose, this sugar rapidly accumulates in the body, and may result in damage to the kidneys, liver, eyes, and brain.(see the related link)
Is galactosemia a frameshift mutation insertion mutation or substitution mutation?
There are 5 different disorders that result in galactosemia differentiated into three main types. The worst is the Classic form and there are over 180 different mutations associated with this form. The GALT gene is modified by substitution is these examples. The most common one in Caucasian is a single substitution of arginine for glutamine at position 188 on the protein. Another mutation that occurs almost exclusively in individuals of African decent is a single substitution of leucine for serine at position 135.
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 happens if galactosemia is untreated?
If galactosemia is untreated, high levels of galactose cause vomiting, diarrhea, lethargy, low blood sugar, brain damage, jaundice, liver enlargement, cataracts, susceptibility to infection, and death.
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
The lack of which enzyme causes galactosemia?
Galactosemia is a genetic disorder which is caused by a lack of the GALT enzyme. This is essential in breaking down the milk sugar galactose.
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 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.
When was Galactosemia found?
it was found in 1908 by Von Ruess
With galactosemia what does the Los Angeles gene refer to?
the city
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
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.
