PGAM2 gene glycogen storage disease type 10 is a rare genetic disorder that affects the body's ability to store and use glycogen, a complex sugar that is stored in the liver and muscles. This disorder is caused by mutations in the PGAM2 gene, which provides instructions for making an enzyme called phosphoglycerate mutase 2. This enzyme plays a key role in the breakdown of glucose, which is used by the body as a source of energy.

People with PGAM2 gene glycogen storage disease type 10 have a buildup of glycogen in their liver and muscle tissues, which can lead to a range of symptoms, including:

• Muscle weakness and stiffness
• Exercise intolerance
• Low blood sugar (hypoglycemia)
• Enlarged liver (hepatomegaly)
• Enlarged heart (cardiomegaly)
• Short stature
• Delayed development

Diagnosis of PGAM2 gene glycogen storage disease type 10 involves a combination of clinical evaluation, genetic testing, and imaging studies. A healthcare provider may suspect the disorder based on the presence of symptoms and an enlarged liver or heart. Genetic testing can confirm the diagnosis by identifying mutations in the PGAM2 gene. Imaging studies, such as magnetic resonance imaging (MRI) or computed tomography (CT), can help evaluate the extent of liver or heart involvement.

At DNA Labs India, we offer NGS genetic DNA testing for PGAM2 gene glycogen storage disease type 10. This test uses next-generation sequencing technology to analyze the DNA sequence of the PGAM2 gene and identify any mutations that may be associated with the disorder. The cost of this test is INR 20,000.

If you or a loved one is experiencing symptoms of PGAM2 gene glycogen storage disease type 10, it is important to seek medical attention and discuss genetic testing options with a healthcare provider. Early diagnosis and treatment can help manage symptoms and improve long-term outcomes.