Også kjent som: Medfødt glykosyleringsforstyrrelse, CDG, karbohydratdefekt, glykoproteinsykdom
Engelsk navn: PMM2-CDG
Engelske synonym: CDG syndrome type Ia,CDG-Ia,CDG1A,Carbohydrate deficient glycoprotein syndrome type Ia,Congenital disorder of glycosylation type 1a,Congenital disorder of glycosylation type Ia,Phosphomannomutase 2 deficiency
A rare 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.