General description

Congenital disorder of glycosylation (CDG) is an inborn error of metabolism caused by deficient function of glycoproteins due to genetic mutations involved in the synthesis and modification processes of glycan chains of glycoproteins.

There are many types of CDGs, the most common of which is PMM2-CDG, which has a variety of symptoms including hypotonia, poor weight gain, psychomotor retardation, epilepsy, characteristic facial features, ophthalmologic abnormalities, skin symptoms such as fatty deposits on the buttocks and sunken nipples, pericardial effusion, and abnormal liver function.

While the typical onset of this syndrome occurs in early infancy, there have been case reports of affected young adults presenting with ovarian dysfunction, cerebellar ataxia, and psychiatric manifestations.

References

1. Feraco, P., et al. "The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a." American journal of neuroradiology 33.11 (2012): 2062-2067.