What encodes for galactose-1-phosphate Uridylyltransferase which is responsible for metabolizing galactose-1-phosphate to UDP galactose?
GALT gene
Galactosemia is an autosomal recessive disorder caused by deficiency in galactose-1-phosphate uridyltransferase, encoded by the GALT gene located on chromosome 9q13.
What are the metabolic consequences of an absence of galactose 1 p Uridyltransferase?
In undiagnosed and untreated children, the accumulation of precursor metabolites due to the deficient activity of galactose 1-phosphate uridylyltransferase (GALT) can lead to feeding problems, failure to thrive, liver damage, bleeding, and infections.
Is galactose-1-phosphate toxic?
In galactokinase deficiency, unlike classical galactosaemia, galactose-1-phosphate does not accumulate. This suggests that galactose-1-phosphate is the toxic metabolite in galactosaemia, and these toxic effects may be due to the inhibitory effect of galactose-1-phosphate on other enzymes such as phosphoglucomutase.
What does galactose-1-phosphate Uridyl transferase do?
Galactose-1-phosphate uridylyltransferase is responsible for one step in a chemical process that breaks down galactose into other molecules that can be used by the body. Specifically, this enzyme converts a modified form of galactose (galactose-1-phosphate) to glucose, which is another simple sugar.
What are the 3 types of galactosemia?
There are 3 forms of the disease: Galactose-1 phosphate uridyl transferase (GALT) deficiency: Classic galactosemia, the most common and most severe form. Deficiency of galactose kinase (GALK) Deficiency of galactose-6-phosphate epimerase (GALE)
How is galactosemia diagnosed?
Galactosemia is usually diagnosed though tests that are done as part of newborn screening programs. A blood test will detect high levels of galactose and low levels of enzyme activity. The blood is usually taken by pricking a baby’s heel. A urine test may also be used to diagnose this condition.
What is galactosemia disease?
Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas.
What happens when you have galactosemia?
People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up one half of lactose, the sugar found in milk. If an infant with galactosemia is given milk, substances made from galactose build up in the infant’s system. These substances damage the liver, brain, kidneys, and eyes.
What is the most common enzyme deficiency that causes galactosemia?
The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridylyl transferase (GALT) which is vital to this process.
Can galactosemia be cured?
Treatment. Galactosemia is a disease that cannot be cured. The disease can only be managed in order to help prevent complications of the condition. The only way to manage galactosemia is to eliminate lactose and galactose from the diet completely.
What are signs of galactosemia?
Symptoms of galactosemia are:
- Convulsions.
- Irritability.
- Lethargy.
- Poor feeding — baby refuses to eat formula containing milk.
- Poor weight gain.
- Yellow skin and whites of the eyes (jaundice)
- Vomiting.
How does a child get galactosemia?
Galactosemia happens when there’s a change (mutation) in the genes that make an enzyme that breaks down galactose. To have galactosemia, a child must inherit two galactosemia genes, one from each parent. In galactosemia, galactose and its byproducts build up in the blood. This can damage cells and parts of the body.