Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that affect the body’s ability to store and use glycogen, a form of sugar or glucose stored in the liver and muscles for energy. Among these, Glycogen Storage Disease Type 9C (GSD IXc) is a rare condition caused by mutations in the PHKG2 gene. This gene plays a crucial role in the regulation of glycogen metabolism. Understanding the symptoms and undergoing genetic testing can be crucial for managing this condition effectively. DNA Labs UAE offers a comprehensive genetic test for diagnosing GSD IXc, which is pivotal for individuals suspected of having this condition.
Symptoms of PHKG2 Gene Glycogen Storage Disease Type 9C
Glycogen Storage Disease Type 9C primarily affects the liver, leading to a range of symptoms that can vary in severity among individuals. Early diagnosis and management are vital to prevent potential complications. The symptoms include:
- Enlarged liver (hepatomegaly): This is one of the most common signs, often noticed in early childhood. It can cause abdominal discomfort and distension.
- Hypoglycemia: Low blood sugar levels, especially after periods of fasting, can lead to symptoms such as dizziness, fatigue, and irritability.
- Growth retardation: Children with GSD IXc may experience slower growth rates, leading to short stature.
- Ketosis: Increased levels of ketones in the blood, a result of the body breaking down fats for energy due to the inability to use stored glycogen.
- High levels of fats in the blood (hyperlipidemia): This can increase the risk of developing other health conditions such as cardiovascular disease.
- Elevated liver enzymes: Indicating liver stress or damage, which can be detected through blood tests.
It’s important to note that the severity and presence of symptoms can vary widely among individuals with GSD IXc. Some may experience mild symptoms, while others may have more severe manifestations of the disease.
PHKG2 Gene Glycogen Storage Disease Type 9C Genetic Test at DNA Labs UAE
DNA Labs UAE offers a genetic test specifically designed to diagnose Glycogen Storage Disease Type 9C. This test is crucial for individuals who present symptoms suggestive of GSD IXc or have a family history of the condition. The test involves analyzing the PHKG2 gene for mutations known to cause the disorder. It’s a straightforward process that requires a simple blood sample from the patient.
The cost of the PHKG2 Gene Glycogen Storage Disease Type 9C Genetic Test is 4400 AED. While the cost may seem significant, early diagnosis and intervention can prevent potential complications and improve the quality of life for individuals with GSD IXc. Additionally, understanding one’s genetic status can provide valuable information for family planning.
For more information or to schedule a test, please visit DNA Labs UAE.
Early diagnosis through genetic testing plays a crucial role in the management of Glycogen Storage Disease Type 9C. It not only aids in the initiation of appropriate treatment and management strategies but also helps in the identification of at-risk family members. DNA Labs UAE is committed to providing accurate and reliable genetic testing services to help individuals and families affected by GSD IXc and other genetic conditions.
