Procedure For Conducting a Galactosemia Test

Submitted on March 27, 2012

Galactose is a type of sugar found in dairy products such as milk and milk related products. During the process of digestion, galactose is broken down to produce glucose. Glucose is one of the primary fuels used in the human body for energy production. Energy production occurs when glucose is matched with oxygen and various chemicals to produce a reaction which generates heat and energy. This basic function of the body takes place throughout the day. The digestive system is designed to break down foods using acids and enzymes. Individuals with enzyme deficiencies may not be able to break down certain foods.

What is Galactosemia?

Galactosemia is a condition where the patient cannot break down galactose to produce glucose. This leads to a situation where the quantity of galactose in the blood rises. As this happens, the individual will be at risk of developing health problems associated with galactosemia, that is, high galactose levels. Individuals with this problem may suffer brain damage or seizures. Galactosemia is a condition that affects children which needs to be diagnosed quickly so that the child is not exposed to the toxic levels of galactose in the blood.

Galactosemia Testing

The galactosemia test is conducted to check if the individual has the correct enzymes in his or her blood which are used to break down galactose into glucose and other substances. Normally, they human body relies on three different enzymes to convert galactose into glucose. If any of these enzymes are missing, the individual will suffer from galactosemia. A galactosemia test can be conducted as a blood test or as a urine test. This medical test is usually conducted on new born babies particularly if there is some evidence that the child is suffering from galactosemia. Doctors usually prefer to conduct the galactosemia test on a sample of blood rather than a sample of urine because blood collection can take place at any time.

There is no preparation required for the galactosemia test. The galactosemia test is a standard blood test which may, in fact, be conducted as part of a series of tests on the same sample of blood. This is often considered to be standard procedure as it is quite prudent to check for a number of issues in the baby’s blood. Galactosemia testing is therefore conducted in the hospital before the baby and the mother leave the premises. Adequate measures can then be taken to ensure that a baby diagnosed with galactosemia does not face the problems associated with excess galactose in the blood.