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Galactose Epimerase - Quantitative

Galactose Epimerase - Quantitative

Galactose is a simple sugar found in various foods and is a component of lactose, the sugar in milk. There are several enzymes involved in the metabolism of galactose, including Galactose Epimerase (officially known as UDP-galactose 4’-epimerase or GALE), which plays a crucial role in the conversion of galactose to glucose. This enzyme is pivotal in the Leloir pathway, which is the metabolic pathway that converts galactose to glucose for energy. The quantitative measurement of Galactose Epimerase activity in the blood is necessary for diagnosing and managing a type of Galactosemia known as Type 3 or Galactosemia III, which is due to a deficiency of the GALE enzyme.

  • Test Name Galactose Epimerase - Quantitative - Blood
  • Sample Type Blood
  • Preparations Required No special preparation is required for this test.
  • Report Time 6 days

Galactosemia is an inherited metabolic disorder characterized by the inability to properly metabolize galactose. There are several types of Galactosemia, each resulting from the deficiency of a different enzyme involved in galactose metabolism. Type 3 Galactosemia, also known as GALE-deficiency Galactosemia, results from a deficiency in the Galactose Epimerase enzyme.

The Galactose Epimerase - Quantitative - Blood test is utilized to measure the level of Galactose Epimerase activity in the blood. It is a specialized laboratory test used to diagnose Type 3 Galactosemia and to monitor patients who have been diagnosed with the disorder.

This test may be ordered if a newborn screening test shows a possible galactose metabolism disorder, or if a child or adult has symptoms suggesting Type 3 Galactosemia. These symptoms may include:

  • Jaundice
  • Poor weight gain
  • Failure to thrive
  • Liver dysfunction
  • Intellectual disability
  • Cataracts

The test may also be ordered for individuals who are known to have Type 3 Galactosemia to monitor the effectiveness of dietary treatment.

The test requires a blood sample, typically drawn from a vein in the arm. The blood sample is then sent to a specialized laboratory where the activity of the Galactose Epimerase enzyme is measured using biochemical assays.

  • Normal levels of Galactose Epimerase activity are indicative of normal galactose metabolism.
  • Reduced or absent Galactose Epimerase activity is suggestive of Type 3 Galactosemia.

Like other forms of Galactosemia, Type 3 requires lifelong management. The main treatment is a galactose-restricted diet, which involves avoiding all milk and milk products and being cautious about other foods containing galactose.

Regular monitoring of liver function, kidney function, and nutritional status is also important.

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Frequently Asked Questions

Yes, Type 3 Galactosemia is a genetic disorder and is usually inherited in an autosomal recessive pattern.

Type 1 is due to a deficiency in the Galactose-1-phosphate uridylyltransferase (GALT) enzyme, Type 2 is due to a deficiency in the Galactokinase (GALK) enzyme, and Type 3 is due to a deficiency in the Galactose Epimerase (GALE) enzyme.

There is no cure for Type 3 Galactosemia, and management involves a strict diet, medical monitoring, and supportive care.

Type 3 is the rarest form of Galactosemia and its prevalence varies among different populations.

Parents of children with Galactosemia can seek support through various organizations and support groups. Additionally, consulting with healthcare professionals and genetic counselors can also provide valuable information and resources.

Galactose Epimerase - Quantitative - Blood test is an essential tool in diagnosing and managing Type 3 Galactosemia. With early diagnosis and proper management, complications can be reduced. For individuals and families affected by Type 3 Galactosemia, education, adherence to dietary restrictions, regular monitoring, and participation in support groups can improve quality of life and long-term outcomes.

Galactose Epimerase - Quantitative - Blood
₹ 2750
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