PMM2-congenital disorder of glycosylation

The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

Also known as: CDG 1A, CDG syndrome type Ia, CDG-IA, CDG1A, PMM2-CDG, PMM2-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type Ia, congenital disorder of glycosylation type 1a

5 clinical trials for this condition and its sub-types.