ALG6CDG

ALG6CDG is a rare genetic disorder belonging to the group of Congenital Disorders of Glycosylation (CDG). These disorders affect the process of glycosylation, which is the addition of sugar chains to proteins and lipids. Specifically, ALG6CDG is caused by mutations in the ALG6 gene. This gene provides instructions for making an enzyme called dolichol-phosphate-mannose synthase. This enzyme plays a crucial role in the early stages of N-glycosylation, a specific type of glycosylation that attaches sugar chains to asparagine residues on proteins.

Individuals with ALG6CDG typically present with a range of neurological symptoms. These can include developmental delay, intellectual disability, seizures, and problems with coordination and movement. Other symptoms may involve the eyes, such as strabismus or nystagmus, and sometimes affect other organ systems. The severity of symptoms can vary significantly among affected individuals. Diagnosis is usually made through genetic testing that identifies mutations in the ALG6 gene. Currently, there is no specific cure for ALG6CDG, and treatment focuses on managing the symptoms and providing supportive care to improve the quality of life for affected individuals. Research into the underlying mechanisms and potential therapeutic interventions is ongoing.