The Galactose-1-phosphate uridylyltransferase (GALT) enzyme is critical in the metabolism of galactose, a simple sugar. The enzyme helps to convert galactose to glucose, which the body can then use for energy. The quantitative measurement of GALT activity in the blood is essential for diagnosing and managing Galactosemia, a metabolic disorder that affects the body's ability to process galactose.
Galactosemia is an inherited disorder that prevents the proper metabolism of galactose. This disorder can lead to the accumulation of galactose-1-phosphate, which is toxic and can cause damage to the liver, central nervous system, and various other systems.
Test NameGalactose Classical - Transferase - Quantitative - Blood
Sample TypeBlood
Preparations RequiredNo special preparation is required for this test.
Report Time6 Days
The primary enzyme responsible for the metabolism of galactose is Galactose-1-phosphate uridylyltransferase (GALT). A deficiency in GALT can lead to the classical form of Galactosemia, often referred to as Type 1 Galactosemia.
The Galactose Classical - Transferase - Quantitative - Blood test is used to measure the level of GALT activity in the blood. It is typically used to diagnose Galactosemia and to monitor patients who are known to have the disorder.
This test may be ordered if a newborn screening test indicates a possible galactose metabolism disorder or if a child or adult has symptoms suggesting Galactosemia. These symptoms may include:
Jaundice
Vomiting or diarrhea
Poor weight gain
Lethargy
Liver dysfunction
Cataracts
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The test may also be ordered for individuals who are known to have Galactosemia to monitor the effectiveness of dietary treatment.
The test requires a blood sample, which is typically drawn from a vein in the arm. The sample is then sent to a laboratory, where the activity of GALT is measured.
Normal levels of GALT activity are generally indicative of normal galactose metabolism.
Reduced or absent GALT activity is suggestive of Galactosemia.
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Galactosemia requires life-long management. The primary treatment for Galactosemia is a galactose-restricted diet, which means avoiding all milk and milk products as well as other foods that contain galactose. People with Galactosemia must be vigilant about the ingredients in their food and may need to take calcium supplements to compensate for the lack of dairy in their diet.
Regular monitoring of liver function, kidney function, and nutritional status is also important for people with Galactosemia.
Home Sample Collection Process
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Frequently Asked Questions
Yes, Galactosemia is a genetic disorder. It is typically inherited in an autosomal recessive pattern,
meaning both copies of the gene in each cell have mutations.
The prognosis for individuals with Galactosemia varies. With early diagnosis and strict adherence to a
galactose-free diet, many individuals can lead relatively normal lives. However, some individuals may
experience long-term complications such as speech difficulties, learning disabilities, and ovarian
failure in females.
Carriers, who have one copy of the mutated gene but do not have the disorder, generally do not show
symptoms of Galactosemia. However, they are at risk of passing the gene to their children.
There is no cure for Galactosemia. Treatment focuses on managing symptoms and preventing complications
through a galactose-restricted diet and regular monitoring.
There are support groups and organizations for individuals with Galactosemia and their families. These
groups can offer emotional support, educational resources, and community connection.
Individuals with Galactosemia need to follow a strict galactose-free diet. This requires avoiding all
milk and milk products and being cautious about other foods that may contain galactose. It's often
necessary to take calcium and vitamin D supplements due to the lack of dairy intake.
Genetic counseling is important for families affected by Galactosemia. It can help family members
understand the genetic nature of the disorder, what to expect, and the risks to future children.
While Galactosemia is usually diagnosed in infancy, it is possible for adults who were not screened as
babies to be diagnosed later in life if they show symptoms of the disorder.
The Galactose Classical - Transferase - Quantitative - Blood test
is an essential tool in the diagnosis and management of Galactosemia, a serious metabolic disorder. Through
early detection, dietary management, and regular monitoring, individuals with Galactosemia can manage their
condition and work toward a better quality of life. Consulting with healthcare professionals, genetic
counselors, and connecting with support groups can be invaluable for those affected by this disorder and their
families.
