congenital disorder of glycosylation type 1E

Congenital disorder of glycosylation type 1E is a condition that affects the glycoprotein synthesis pathway and is part of the broader group of congenital disorders of glycosylation. It is caused by alterations in the DPM1 gene, which plays a critical role in glycoprotein production. The condition typically presents in early childhood with neurological challenges such as psychomotor delay and seizures. It is very rare, affecting fewer than 1 in a million individuals.

Individuals with congenital disorder of glycosylation type 1E often exhibit early onset psychomotor delay, seizures, and hypotonia. Other common clinical features include distinctive facial dysmorphism, microcephaly, and ocular anomalies. A consistently observed laboratory finding in affected individuals is an elevated concentration of hepatic transaminases. Not all individuals experience every feature, and severity varies considerably.

Congenital disorder of glycosylation type 1E is caused by mutations in the DPM1 gene, which is essential for the proper synthesis and processing of glycoproteins. Disruption in the function of the DPM1 protein leads to abnormalities in glycosylation that affect multiple body systems. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the altered gene to be affected. This condition is more common when parents share a common ancestor because the likelihood of both being carriers is increased.

Currently, management focuses on supportive care and symptom relief. Treatment is tailored to the individual and typically involves a multidisciplinary team, including specialists such as neurologists and metabolic experts. There are no established foundational therapies or FDA-approved treatments specifically for congenital disorder of glycosylation type 1E. Patients should discuss treatment options with their healthcare team to determine the most appropriate supportive interventions, and genetic counseling is recommended for affected families.

The course of congenital disorder of glycosylation type 1E is highly variable, with outcomes that range widely based on the severity of symptoms and the timing of diagnosis. With current standards of care, many individuals may continue into adulthood, though the condition can involve significant challenges early in life. Outcomes described in medical literature continue to evolve as standards of care improve, and individual experiences can differ significantly. Families often find it helpful to connect with genetic counselors and support organizations to navigate long-term care and explore family planning options.