The SRD5A3 gene plays a crucial role in the human body, involved in the biosynthesis of dolichol-linked oligosaccharides. Mutations in this gene can lead to a rare condition known as Congenital Disorder of Glycosylation Type Iq (CDG-Iq). This disorder is part of a larger group of diseases that affect the glycosylation process, which is critical for proper cell function and development. Understanding the symptoms of this disorder is vital for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the SRD5A3 gene to aid in the diagnosis of CDG-Iq, priced at 4400 AED. More information can be found at DNA Labs UAE.
Symptoms of SRD5A3 Gene Congenital Disorder of Glycosylation Type Iq
Congenital Disorder of Glycosylation Type Iq (CDG-Iq) is a multi-system disorder that can present a wide range of symptoms, varying significantly from one individual to another. The symptoms can range from mild to severe and may affect various parts of the body, including the nervous system, the eyes, the liver, and the coagulation system. Early diagnosis is crucial as it can guide the management and treatment of the disorder, potentially improving the quality of life for those affected.
Neurological Symptoms
Many individuals with CDG-Iq experience neurological symptoms, which can include developmental delay, intellectual disability, seizures, and hypotonia (reduced muscle tone). These symptoms result from the impaired glycosylation of proteins essential for normal brain function. Early intervention with therapies can help manage some of these neurological symptoms.
Ophthalmological Symptoms
Eye-related issues are common in patients with CDG-Iq, such as strabismus (crossed eyes), nystagmus (involuntary eye movements), and vision impairment. These symptoms are due to the abnormal development of the eye structures, again linked to the defective glycosylation process.
Liver and Coagulation Abnormalities
Liver dysfunction, including elevated liver enzymes and coagulation abnormalities, can also be observed in individuals with CDG-Iq. These symptoms can lead to an increased risk of bleeding and other related complications. Regular monitoring and management of liver function are essential for patients with this condition.
Cost of the Genetic Test
The genetic test for the SRD5A3 gene offered by DNA Labs UAE is priced at 4400 AED. This test can provide a definitive diagnosis of CDG-Iq, allowing for appropriate management and treatment plans to be developed. It is a crucial step for families seeking answers to complex symptoms that may have been challenging to diagnose.
Conclusion
Congenital Disorder of Glycosylation Type Iq (CDG-Iq) is a complex condition that requires a multidisciplinary approach for management and treatment. Understanding the symptoms is the first step towards diagnosis. The genetic test for the SRD5A3 gene offered by DNA Labs UAE is a valuable resource for individuals and families affected by this disorder. Early diagnosis can significantly impact the management and quality of life for those with CDG-Iq.
For more information about the SRD5A3 gene congenital disorder of glycosylation type Iq genetic test, please visit DNA Labs UAE.
