Short Description

Classical Galactosemia due to complete deficiency of Galactose -1- phosphate uridyltransferase is characterised by poor growth, mental retardation, speech abnormalities, vison impairment due to cataract and liver enlargement. Partial deficiency of Galactose -1- phosphate uridyltransferase leads to Galactosemia Duarte variant.

PreTest Information

Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.

Detail Description

GALACTOSEMIA CLASSICAL (TRANSFERASE) QUANTITATIVE BLOOD Test cost INR:2223 symptoms diagnosis

GALACTOSEMIA CLASSICAL (TRANSFERASE) is a rare genetic disorder that affects the body's ability to process the sugar galactose. This disorder is caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase (GALT), which is responsible for breaking down galactose in the body. This deficiency can lead to a buildup of galactose in the blood, which can cause serious health problems if left untreated.

Symptoms of GALACTOSEMIA CLASSICAL (TRANSFERASE)

The symptoms of GALACTOSEMIA CLASSICAL (TRANSFERASE) can vary depending on the severity of the condition. Some common symptoms include:

• Jaundice (yellowing of the skin and eyes)
• Enlarged liver
• Failure to thrive (poor growth and development)
• Vomiting
• Diarrhea
• Lethargy (lack of energy)
• Tremors
• Seizures

If left untreated, GALACTOSEMIA CLASSICAL (TRANSFERASE) can lead to serious health problems, including liver damage, intellectual disability, and even death.

Diagnosis of GALACTOSEMIA CLASSICAL (TRANSFERASE)

The diagnosis of GALACTOSEMIA CLASSICAL (TRANSFERASE) is typically made through a blood test. This test measures the level of galactose-1-phosphate uridyltransferase (GALT) in the blood. A low level of GALT is a sign of GALACTOSEMIA CLASSICAL (TRANSFERASE).

Other tests may be done to confirm the diagnosis, including genetic testing to look for mutations in the GALT gene.

Cost of GALACTOSEMIA CLASSICAL (TRANSFERASE) test

The cost of a GALACTOSEMIA CLASSICAL (TRANSFERASE) test in India is around INR 2223. However, the cost may vary depending on the location and the laboratory where the test is performed.

Treatment of GALACTOSEMIA CLASSICAL (TRANSFERASE)

There is no cure for GALACTOSEMIA CLASSICAL (TRANSFERASE), but the condition can be managed with a special diet that is low in galactose. This diet typically involves avoiding foods that contain lactose (milk sugar) and galactose. Infants with GALACTOSEMIA CLASSICAL (TRANSFERASE) may need to be fed a special formula that is free of lactose and galactose.

In some cases, medications may be used to treat the symptoms of GALACTOSEMIA CLASSICAL (TRANSFERASE), such as antibiotics to treat infections and anti-seizure medications to prevent seizures.

Conclusion

GALACTOSEMIA CLASSICAL (TRANSFERASE) is a rare genetic disorder that can lead to serious health problems if left untreated. If you or your child is experiencing symptoms of GALACTOSEMIA CLASSICAL (TRANSFERASE), it is important to talk to your doctor about getting tested. The cost of the test is reasonable and the treatment is manageable with a special diet. Early diagnosis and treatment can help prevent serious health problems and improve the quality of life for those with this condition.

For more information on GALACTOSEMIA CLASSICAL (TRANSFERASE) testing and treatment, contact DNA Labs India.