Fumarase Deficiency, also known as Fumaric Aciduria, is a rare genetic disorder that affects the Krebs cycle, a crucial part of cellular energy production. It is caused by mutations in the FH gene, which leads to an insufficiency of the enzyme fumarase. This enzyme is vital for converting fumaric acid into malic acid in the mitochondria, and its deficiency can lead to a buildup of fumaric acid in the body, causing a range of symptoms and health issues. Understanding the symptoms of FH Gene Fumarase Deficiency is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for this condition, providing essential information for affected individuals and their families.
Symptoms of FH Gene Fumarase Deficiency
The symptoms of FH Gene Fumarase Deficiency can vary widely among affected individuals, ranging from mild to severe. Some of the most common symptoms include:
- Developmental delays: Children with Fumarase Deficiency often exhibit significant delays in reaching developmental milestones such as sitting, walking, and talking.
- Intellectual disability: Many individuals affected by this condition have some degree of intellectual disability or cognitive impairment.
- Seizures: Epileptic seizures are a common symptom and can be difficult to manage in some cases.
- Hypotonia: Also known as floppy baby syndrome, hypotonia refers to reduced muscle tone and is a common feature in infants with this condition.
- Failure to thrive: Infants with Fumarase Deficiency may have difficulty gaining weight and growing at a normal rate.
- Physical malformations: Some affected individuals may have distinct facial features, such as a high forehead, low nasal bridge, and widely spaced eyes. Other possible physical abnormalities include defects in the heart, kidneys, and urinary tract.
- Encephalopathy: A severe neurological condition that can lead to a variety of complications, including lethargy, coma, and even death in extreme cases.
It is important to note that the severity and combination of symptoms can vary significantly from one individual to another. Early diagnosis and intervention are crucial for managing the condition and improving the quality of life for those affected.
FH Gene Fumarase Deficiency Genetic Test at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test for FH Gene Fumarase Deficiency, designed to identify mutations in the FH gene that are responsible for the condition. This test is an important tool for confirming the diagnosis, especially in individuals who present with the symptoms mentioned above. The genetic test involves a simple blood draw, and the sample is analyzed using advanced genetic sequencing techniques to detect mutations in the FH gene.
The cost of the FH Gene Fumarase Deficiency Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it is a crucial investment in the health and well-being of affected individuals and their families. Early diagnosis through genetic testing can lead to early intervention and management strategies, potentially improving outcomes and quality of life for those with the condition.
For more information on the FH Gene Fumarase Deficiency Genetic Test and to schedule a test, please visit DNA Labs UAE.
Understanding the symptoms of FH Gene Fumarase Deficiency and having access to genetic testing is vital for affected individuals and their families. DNA Labs UAE is committed to providing accurate, comprehensive genetic testing services to help diagnose and manage this rare condition. By identifying the genetic basis of the condition, families can make informed decisions about care and management, potentially improving the quality of life for those affected.
