Galactose-1-Phosphate Test Cost & Procedure

For patients with Classic Galactosemia, Galactosemia-Duarte variant, and UDP-galactose-4-epimerase deficiency, this test helps monitor nutritional therapy.

Galactose-1-phosphate: What is it?

• One stage in a chemical process that converts galactose into other molecules the body can use is carried out by galactose-1-phosphate uridylyltransferase.
• In particular, this enzyme changes galactose-1-phosphate, a modified form of galactose, into glucose, another simple sugar.
• Most cells use glucose as their primary source of energy. Another form of galactose (UDP-galactose), which is used to construct proteins and lipids that include galactose, is also produced by this chemical process.
• These altered proteins and lipids are essential for chemical signalling, cellular structure, molecular transport, and energy production.

Why is the Test Conducted?

This exam is a galactosemia screening.

In typical diets, lactose, which is present in milk and dairy products, is broken down (metabolised) to produce the majority of the galactose. One GALT-deficient infant out of every 65 000 is born. The body cannot recess down galactose without this chemical, and as an outcome, it collects in the blood. Use of milk products over time may result in:

• clouding of the eye's lens (cataracts)
• hepatic scarring (cirrhosis)

failing to flourish

• Having yellow eyes or skin (jaundice)

an enlarged liver

• intellectual handicap
• If left untreated, this ailment may become severe.
• failing to flourish
• Having yellow eyes or skin (jaundice)
• an enlarged liver

• intellectual handicap Normal Results: 18.5 to 28.5 U/g Hb is considered normal (units per gramme of haemoglobin).

Various laboratories may test different samples or use multiple metrics.

What do abnormal Findings Indicate?

An abnormal outcome suggests galactosemia.  A genetics expert should be contacted immediately if you suspect your child has galactosemia. The youngster needs to start a milk-free diet right away. Both breast milk and animal milk are prohibited. Often, soy milk and newborn soy formula are substituted.