Galactosemia Classical (Transferase) (Quantitative) (Blood) Test

Classic Galactosemia is a rare genetic metabolic disorder that affects a person’s ability to metabolize the sugar galactose properly. The term galactosemia literally means the presence of too much galactose in the blood. This test involves either a urine test or blood test that checks for enzymes that are needed to change galactose into glucose(a sugar that the body uses for energy). For example, a sugar that is found in milk and milk products. This causes high levels of galactose in the blood or urine. Care is the only treatment for classic Galactosemia. Eliminate lactose and galactose from the diet. With a restricted diet and early diagnosis, some individuals can experience long-term complications such as learning disabilities, speech difficulties, and etc.

No special preparation is required preceding to this test. A doctor or the professional lab technician must be accessible in an emergency with his tools ready. The equipment should be immediately available when such tests are performed. Enlighten your doctor if you are on any medications or have any fundamental health checks before undergoing the test. Depending upon your condition doctor will give special instructions. You have to follow them religiously. Fasting is not necessary for this test. Take your food as you have it on regular days.

Normal results- If the test results are negative Galactosemia is not present. Abnormal results- If the test results are positive Galactosemia is present. A person with Galactosemia doesn't have one of the enzymes that are needed to change galactose into glucose.This causes high levels of galactose in the blood or urine. Some labs use different measurements and methods for the test. Ask your doctor to know what your test results mean for you.

A specimen should be taken prior to transmission of blood. The enzyme is prostrate to damage if analysis of the sample is delayed or exposed to high temperatures. Two screening tests are used to screen persons affected with Galactosemia- the Beutler's test and the Hill test. The Beutler's test screens for Galactosemia by detecting the level of the enzyme. Hill test directly measures galactose levels by using a fluorimetric assay.