Glycogen storage disease type 9A (GSD9A) is a condition that affects the liver’s ability to break down glycogen into glucose, which is the primary energy source for the body. This condition is caused by mutations in the PHKA2 gene. DNA Labs UAE offers a comprehensive genetic test for diagnosing this condition, ensuring that individuals can […]
Metabolic Disorders
Symptoms and Testing information for GYS2 Gene Glycogen storage disease type 0 Genetic Test
Glycogen storage disease type 0 (GSD0) is a rare genetic disorder affecting the way the body processes glycogen, a stored form of glucose, which is a primary source of energy for the body. The GYS2 gene plays a critical role in this process, and mutations in this gene can lead to GSD0. Recognizing the symptoms […]
Symptoms and Testing information for PHKB Gene Glycogen Storage Disease Type 9B Genetic Test
Glycogen storage disease type 9B (GSD 9B) is a rare genetic disorder that affects the body’s ability to break down glycogen, a complex sugar stored in the liver and muscles for energy. This condition is caused by mutations in the PHKB gene, which plays a crucial role in glycogen metabolism. Individuals with GSD 9B may […]
Symptoms and Testing information for GYS1 Gene Glycogen storage disease type 0 muscle Genetic Test
Understanding GYS1 Gene Glycogen Storage Disease Type 0 Muscle Genetic Test Glycogen storage disease type 0 (GSD 0) is a rare genetic disorder affecting the body’s ability to properly store and utilize glycogen, a key form of energy storage. This condition specifically impacts the muscle variant, caused by mutations in the GYS1 gene. Recognizing the […]
Symptoms and Testing information for PGAM2 Gene Glycogen storage disease type 10 Genetic Test
Glycogen storage disease type 10, caused by mutations in the PGAM2 gene, presents a unique challenge in the field of medical genetics. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services to diagnose this rare condition. Understanding the symptoms and undergoing the right genetic test can significantly improve the management and […]
Symptoms and Testing information for LDHA Gene Glycogen storage disease type 11 Genetic Test
Glycogen storage disease type 11 (GSD XI), also known as lactate dehydrogenase A deficiency (LDHA deficiency), is a rare genetic disorder that affects the body’s ability to break down glycogen, a stored form of glucose. This condition is caused by mutations in the LDHA gene, which plays a crucial role in the glycolysis pathway, converting […]
Symptoms and Testing information for ALDOA Gene Glycogen storage disease type 12 Genetic Test
Understanding ALDOA Gene Glycogen Storage Disease Type 12 Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that affect the body’s ability to store and use glycogen, a key form of energy storage. Among these, the ALDOA gene glycogen storage disease type 12 is a rare but significant condition that impacts the breakdown […]
Symptoms and Testing information for ENO3 Gene Glycogen storage disease type 13 Genetic Test
Symptoms of ENO3 Gene Glycogen Storage Disease Type 13 Genetic Test Glycogen storage disease type 13 (GSD13), caused by mutations in the ENO3 gene, is a rare metabolic disorder that affects muscle energy storage and utilization. This condition can lead to various symptoms, primarily impacting muscle function. Understanding these symptoms is crucial for early diagnosis […]
Symptoms and Testing information for PGM1 Gene Glycogen storage disease type 14 Genetic Test
Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that affect the body’s ability to store and use glycogen, a key form of energy storage. Among these, Glycogen Storage Disease Type 14 (GSD XIV), caused by mutations in the PGM1 gene, is a rare but significant condition that can impact various bodily functions. […]
Symptoms and Testing information for GLUL Gene Glutamine deficiency congenital Genetic Test
In the realm of genetic testing, the understanding and identification of specific gene deficiencies have become crucial in diagnosing and treating various congenital conditions. One such condition, caused by deficiencies in the GLUL gene, can lead to severe health implications if not identified and managed properly. The GLUL gene is responsible for the synthesis of […]