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.
Home Sample Collection Process
1
Book your convenient slot
2
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
4
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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.
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