type Ia congenital disorder of glycosylation

Congenital disorders of glycosylation (CDG) are a group of rare diseases affecting multiple organs, particularly the brain. These disorders stem from defects in the N-glycosylation pathway, a cellular process crucial for protein and lipid synthesis within the cytoplasm and endoplasmic reticulum.1

The most common form, CDG type Ia, is characterized by low muscle tone in infancy, severe developmental delays, and brain abnormalities. Affected children may also exhibit inverted nipples, unusual fat distribution, hypoglycemia, seizures, stroke-like episodes, vision problems, impaired heart function, vomiting, liver disease, diarrhea, and a tendency to bleed. Currently, there is no effective treatment for CDG, with the exception of type Ib, where mannose may help reverse symptoms in some individuals.1