Understanding the implications of genetic disorders is crucial for early diagnosis and management. One such disorder, Carnitine-acylcarnitine translocase (CACT) deficiency, is a rare but severe condition that affects the body’s ability to convert certain fats into energy, particularly during fasting or illness. This disorder is caused by mutations in the SLC25A20 gene. DNA Labs UAE offers a comprehensive genetic test for diagnosing this condition, providing vital information for affected individuals and their families.
CACT deficiency is a form of carnitine uptake disorder that can lead to severe metabolic crises, often manifesting in the neonatal period or early childhood. The symptoms are varied but can be life-threatening, making early diagnosis and intervention critical. The SLC25A20 gene carnitine-acylcarnitine translocase deficiency genetic test available at DNA Labs UAE is a pivotal step in identifying this condition, with the test costing 4400 AED.
Symptoms of SLC25A20 Gene Carnitine-acylcarnitine Translocase Deficiency
The symptoms of CACT deficiency can be severe and are often triggered by periods of fasting or illness. They include:
- Hypoglycemia (low blood sugar)
- Cardiomyopathy (heart muscle disease)
- Liver dysfunction
- Muscle weakness
- Neurological problems, including seizures
- Respiratory distress
- Fatigue and lethargy
- Poor feeding in infants
It’s important to note that the severity and onset of these symptoms can vary widely among individuals. Some may experience symptoms shortly after birth, while others may not show signs until later in childhood.
Importance of Genetic Testing for CACT Deficiency
Genetic testing for CACT deficiency is crucial for several reasons. Firstly, it allows for early diagnosis, which is essential for managing symptoms and preventing metabolic crises. Secondly, it provides valuable information for family planning, as CACT deficiency is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene to pass the disorder onto their children.
The SLC25A20 gene carnitine-acylcarnitine translocase deficiency genetic test offered by DNA Labs UAE is a comprehensive test that screens for mutations in the SLC25A20 gene, providing a definitive diagnosis for affected individuals. This test is particularly important for families with a history of CACT deficiency or those who have children showing symptoms consistent with the disorder.
Conclusion
CACT deficiency is a serious condition that requires early diagnosis and management to prevent severe complications. The symptoms of CACT deficiency can be life-threatening but vary widely among individuals. Genetic testing, such as the SLC25A20 gene carnitine-acylcarnitine translocase deficiency genetic test offered by DNA Labs UAE for 4400 AED, plays a critical role in diagnosing this condition, enabling early intervention and informed family planning. For more information and to schedule a test, visit DNA Labs UAE.
