PMM2-CDG synonyms

PMM2-CDG, also known as Congenital Disorder of Glycosylation Type 1a (CDG-Ia), is a rare genetic disorder that affects the body's ability to produce certain proteins and sugars. It is caused by mutations in the PMM2 gene, which is responsible for an enzyme involved in the production of glycoproteins.

Individuals with PMM2-CDG may experience a wide range of symptoms, including developmental delays, intellectual disability, seizures, liver dysfunction, and impaired blood clotting. The severity and specific symptoms can vary greatly from person to person.

Treatment for PMM2-CDG is primarily focused on managing the symptoms and providing supportive care. This may include physical and occupational therapy to address developmental delays, medications to control seizures, and specialized diets to manage liver dysfunction. Regular monitoring and medical interventions are often necessary to address specific complications that may arise.

Research and advancements in understanding PMM2-CDG are ongoing, with the aim of improving diagnosis, treatment, and quality of life for individuals affected by this condition. Genetic counseling is recommended for families with a history of PMM2-CDG to understand the risk of passing on the condition to future generations.

PMM2-CDG is a rare genetic disorder known as Congenital Disorder of Glycosylation Type 1a (CDG-Ia). It affects protein and sugar production due to mutations in the PMM2 gene. Symptoms can vary and may include developmental delays, intellectual disability, seizures, liver dysfunction, and impaired blood clotting. Treatment focuses on managing symptoms and providing supportive care. Ongoing research aims to improve diagnosis, treatment, and quality of life for affected individuals. Genetic counseling is recommended for families with a history of PMM2-CDG.