What is PMM2-CDG

PMM2-CDG is a rare genetic disorder that falls under the category of congenital disorders of glycosylation (CDG). It is caused by mutations in the PMM2 gene, which is responsible for producing an enzyme called phosphomannomutase 2. This enzyme plays a crucial role in the process of protein glycosylation, which is essential for normal cell function.

Individuals with PMM2-CDG may experience a wide range of symptoms that can vary in severity. These may include developmental delays, intellectual disability, failure to thrive, liver dysfunction, seizures, and various physical abnormalities. The onset and progression of symptoms can also differ among affected individuals.

Diagnosis of PMM2-CDG typically involves genetic testing to identify mutations in the PMM2 gene. While there is currently no cure for this disorder, management focuses on addressing individual symptoms and providing supportive care.

Research efforts are ongoing to better understand PMM2-CDG and develop potential treatments. Genetic counseling is recommended for families affected by this condition to understand the inheritance pattern and make informed decisions.