Galactosemia Classical (Transferase) Quantitative - Test, Procedure & Cost

It is a blood test that is used for checking a rare genetic disorder, which is known as galactosemia. This test is used in newborns.

Galactosemia prevents our body from breaking a simple sugar known as Galactose. Galactose is found in all dairy products and many foods. It is also found in breast milk.

Galactosemia in our blood produces toxic levels.

If a child with galactosemia is given dairy products, it may damage the eyes, brain, and kidneys.

Galactosemia

As certain enzymes break the galactosemia. So when there is a change in the functioning of these enzymes.

The three types of galactosemia are:

• GALT (galactose -1 phosphate uridyl transferase)
• GALK (galactose kinase) deficiency
• GALE (galactose epimerase) deficiency

If a newborn with this galactosemia eats food enriched with galactose, there will be high sugar levels in the blood. This increase in the sugar level will lead to serious health problems, which include lung disease, kidney disease, and even it may lead to death.

What causes galactose gene mutation causes it.

Symptoms:

• Failure to gain weight
• Jaundice
• Lack of energy
• Abnormal bleeding
• Liver Damage
• Tremors
• Delay in speech
• Disability in learning
• Ataxia
• Edema

Galactosemia affecting Adults

Women with galactosemia will have ovarian insufficiency even with early diagnosis and treatment.

Galactosemia Test

This test is helpful in the diagnosis of galactosemia in a newborn. There is no cure for this disorder. A child with galactosemia is fed with soya and lactose-free diet. Vitamin D and calcium supplements are added to the diet, which helps in maintaining bone density. Children must avoid dairy products and have a special diet. Children with galactosemia are planning special, healthy diets throughout their lives.

Why does an infant need Galactosemia Test

There is an infant screening test. This test checks the variety of diseases.

This test is conducted when a baby has the following symptoms:

•  Vomiting
• Jaundice
• Poor weight gain
• Refusal to eat

How to conduct the test

Needles are used for pricking the blood and blood is collected for detection.

Interpretation of the Test

Negative results result in the absence of disorder.

Positive results result in more testing to confirm the infection. The other tests include genetic, blood, and urine test.