Blogs

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 […]

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 […]

Glycogen storage disease type 7, also known as Tarui disease, is a rare genetic disorder that affects the body’s ability to metabolize glycogen, a key source of energy during physical activity. This condition is caused by mutations in the PFKM gene, which provides instructions for making a critical enzyme needed for breaking down glycogen into […]

Glycogen storage disease type 6B (GSD 6B), also known as Hers disease, is a rare genetic disorder that affects the liver’s ability to break down glycogen into glucose. This condition is caused by mutations in the PYGL gene, which plays a critical role in glycogenolysis, the process of converting glycogen back into glucose. Understanding the […]

Understanding Glycogen Storage Disease Type 5 Glycogen Storage Disease Type 5 (GSD5), also known as McArdle’s Disease, is a rare genetic disorder that affects the way the body processes glycogen, a key energy source for muscle activity. This condition is caused by mutations in the PYGM gene, which plays a crucial role in glycogen metabolism. […]

Glycogen Storage Disease Type 4 (GSD IV), also known as Andersen’s disease, is a rare genetic disorder characterized by the accumulation of abnormal glycogen in the body’s cells. This condition is caused by mutations in the GBE1 gene, which provides instructions for producing the enzyme glycogen branching enzyme. The absence or malfunctioning of this enzyme […]

Glycogen storage disease type 3 (GSD III), also known as Cori’s disease or Forbes’ disease, is a rare genetic disorder that affects the body’s ability to break down glycogen. This condition is caused by mutations in the AGL gene, which leads to the accumulation of abnormal glycogen in tissues, particularly in the liver and muscles, […]

Symptoms of GAA Gene Glycogen Storage Disease Type 2 Glycogen Storage Disease Type 2 (GSD II), also known as Pompe disease, is a rare genetic disorder that affects the muscles and the heart. It results from mutations in the GAA gene, which leads to the accumulation of glycogen in the lysosomes of cells. This accumulation […]

Glycogen Storage Disease Type 1A (GSD 1A) is a rare genetic disorder that affects the way the body processes glycogen, a stored form of glucose. This condition results from mutations in the G6PC gene, which plays a crucial role in glucose metabolism. Early diagnosis and management are vital to mitigate the impact of this disease […]

Symptoms of GYG1 Gene Glycogen Storage Disease Type 15 Glycogen storage disease type 15 (GSD XV) caused by mutations in the GYG1 gene is a rare condition that impacts muscle function. The GYG1 gene plays a crucial role in the synthesis and structure of glycogen. Mutations in this gene can lead to an abnormal glycogen […]