DPAGT1CDG

DPAGT1CDG, also known as congenital disorder of glycosylation type 1N (CDG-1N), is a rare genetic metabolic disorder characterized by abnormalities in protein glycosylation. Glycosylation is a biochemical process where carbohydrate molecules are attached to proteins, playing a critical role in their structure and function. DPAGT1CDG arises from mutations in the *DPAGT1* gene, which encodes the enzyme dolichol-phosphate N-acetylglucosamine-1-phosphate transferase (DPAGT1). This enzyme is essential for the initial step of N-linked glycosylation, a process vital for the proper folding and stability of many proteins.

Symptoms of DPAGT1CDG can vary widely among affected individuals, often including developmental delays, intellectual disability, and neurological impairments. Some patients may exhibit hypotonia (low muscle tone), seizures, and abnormal facial features. Growth retardation and skeletal abnormalities, such as short stature and limb deformities, are also common. Liver dysfunction, characterized by elevated liver enzymes or jaundice, may occur in some cases. The severity of symptoms can range from mild to severe, depending on the specific mutation and its impact on protein function.

Diagnosis typically involves biochemical testing to detect abnormal glycosylation patterns in blood or urine samples, followed by genetic confirmation through sequencing of the *DPAGT1* gene. Treatment is primarily supportive, focusing on managing symptoms such as seizures, developmental therapies, and nutritional support. There is currently no cure for DPAGT1CDG, but ongoing research aims to better understand its pathophysiology and explore potential therapeutic interventions.

DPAGT1CDG is inherited in an autosomal recessive manner, meaning an individual must inherit two copies of the mutated gene—one from each parent—to develop the disorder. Carrier parents, who possess only one mutated copy, generally do not exhibit symptoms but may have an increased risk of passing the condition to their children. Genetic counseling is recommended for families affected by or at risk of DPAGT1CDG to assess inheritance patterns and recurrence risks.