Fructose-1,6-bisphosphatase deficiency is a rare, inherited metabolic disorder affecting the liver’s ability to properly metabolize fructose and glycogen. This condition is caused by mutations in the FBP1 gene, which plays a crucial role in gluconeogenesis, the process of producing glucose from non-carbohydrate sources. Individuals with this deficiency can experience a range of symptoms, particularly during fasting or after consuming foods rich in fructose, sucrose, or sorbitol. Understanding the symptoms and undergoing genetic testing can be vital for managing the condition effectively.
Symptoms of FBP1 Gene Fructose-1,6-bisphosphatase Deficiency
Individuals with fructose-1,6-bisphosphatase deficiency may exhibit a wide array of symptoms, which can vary significantly in severity. Some of the most common symptoms include:
- Hypoglycemia (low blood sugar levels), especially after periods of fasting or consuming fructose-rich foods.
- Lactic acidosis, a buildup of lactate in the body, which can lead to nausea, vomiting, abdominal pain, and rapid breathing.
- Ketosis, which is the accumulation of ketone bodies in the blood, often resulting in a distinct fruity-smelling breath.
- Failure to thrive in infants, characterized by an inability to gain weight or grow at the expected rate.
- Liver enlargement (hepatomegaly), which may be accompanied by mild jaundice.
- Increased susceptibility to infections.
- In severe cases, seizures and coma can occur due to extremely low blood sugar levels.
It’s important to note that the severity and combination of symptoms can vary widely among individuals. Some may experience mild symptoms that are easily managed, while others may face life-threatening complications, particularly if the condition is not diagnosed and managed properly.
Genetic Test for FBP1 Gene Fructose-1,6-bisphosphatase Deficiency
To confirm a diagnosis of fructose-1,6-bisphosphatase deficiency, a genetic test is conducted. This test involves analyzing the DNA to identify mutations in the FBP1 gene. DNA Labs UAE offers a comprehensive FBP1 gene fructose-1,6-bisphosphatase deficiency genetic test designed to detect these mutations accurately, helping to confirm the diagnosis and facilitate proper management of the condition.
Test Cost
The cost of the FBP1 gene fructose-1,6-bisphosphatase deficiency genetic test at DNA Labs UAE is 4400 AED. While the test cost may seem high, it is a critical step towards a definitive diagnosis and personalized treatment plan. Early diagnosis and intervention can significantly improve the quality of life for individuals with this condition and prevent serious complications.
Conclusion
Fructose-1,6-bisphosphatase deficiency is a serious condition that requires timely diagnosis and management. Recognizing the symptoms and understanding the importance of genetic testing are crucial steps toward effective treatment. With the help of DNA Labs UAE and their comprehensive genetic testing services, individuals and families affected by this condition can receive the support and care they need to manage their health effectively.
