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 […]
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 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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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