EDEM3
Name of Disorder

EDEM3 (ER Degradation Enhancing Alpha-Mannosidase Like Protein 3) - congenital disorder of glycosylation (EDEM3-CDG).

Symptoms

EDEM3-CDG is a very rare inherited condition that affects multiple parts of the body. There are only 12 EDEM3-CDG patients from 7 families published in the medical literature.

Individuals with EDEM3-CDG typically develop signs and symptoms of the condition during infancy and childhood. Affected individuals exhibit developmental delay, speech delay, mild facial abnormalities, and about 50% have behavioral abnormalities (primarily hyperactivity, attention deficit, and anxiety). Approximately 25% have failure to thrive requiring G-tube feeds and another 25% have central apnea that resolves with age.

Diagnosis

EDEM3-CDG affects N-glycosylation, but the patients tested to date have normal transferrin glycosylation, however they may have global glycosylation abnormalities detected on N-glycan analysis. The ultimate diagnosis is genetic testing in blood. Individuals with EDEM3-CDG have two faulty copies of the EDEM3 gene

Treatment and prognosis

To date, there are no known specific treatment options for EDEM3-CDG. Treatment is aimed at the management of symptoms and the prevention of complications. Patients seem to have a good life expectancy. The oldest EDEM3-CDG patient that has been described in the medical literature was 33 years old in 2021.