Galaktokinase in Erythrocytes (GALAK EDTA)
Galactosemia is a rare congenital metabolic disease
Store pre-analyzed blood in a cool place after collection
Method Radioimmunoassay (RIA
)This test is gadeen when further investigation is needed for suspected congenital enzyme defects in non-spherocytic hemolytic anemias, particularly in the development of cataracts in childhood or in young adults. It is also useful to determine galactose in the blood and galactose in the urine.
With an enzyme defect, there is an increased concentration of galactose in the blood and urine. carriers are at increased risk.
Several factors can promote the development of cataracts. Cataracts are most common in old age. However, increased cataract formation can also occur after an eye injury, as a side effect of medication (e.g., cortisone), or as a result of radiation exposure.
Cataract or gray cataract is a clouding of the lens of the eye that reduces vision. In extreme cases, the lens of the eye becomes completely opaque, causing blindness of the eye.
Worldwide, about 17.5 million people are blind due to cataracts. That is almost half of the total number of blind people. Between the ages of 50 and 65, about half of all people already have signs of cataract, but most are not bothered by it yet. Around 75 years of age 70% have cataracts. From that age onwards, the vision problems caused by the condition increase significantly. People with diabetes are often affected by cataracts at a younger age. When vision gradually begins to change after the age of 60 and one can no longer read without glasses, for example, this is often due to cataracts. Blurred vision especially in bright backlight and double vision in one eye are also common symptoms of cataract.
In galactokinase deficiency, the body cannot properly convert galactose (a type of sugar) into glucose for energy. If a child with galactokinase deficiency is given food that contains galactose the galactose accumulates in the blood. Some of this galactose is converted by the body into another sugar (galactitol), which then ends up in the lens of the eye and in the urine, among other things. Galactose is found in many foods, such as lactose (milk sugar). Lactose is found in all kinds of foods including breast milk and "normal" infant milk.
Babies with galactokinase deficiency often develop cataracts (cataracts) in the first weeks or months of life. The cataract usually disappears completely if treatment is started quickly. In galactokinase deficiency children are otherwise healthy. They do not have the other symptoms that occur with classic galactosemia. There are also few long-term consequences of galactokinase deficiency.
Very occasionally, with untreated galactokinase deficiency, there can be increased pressure in the brain. The symptoms then make it seem as if there is a tumor in the brain, but this is not the case. This is called "pseudotumor cerebri".