/PMM2-congenital disorder of glycosylation

PMM2-congenital disorder of glycosylation

Rare Disease

MONDO:0008907

Also Known As

CDG 1ACDG syndrome type IaCDG-IACDG1APMM2-CDGPMM2-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type Iacongenital disorder of glycosylation type 1acongenital disorder of glycosylation type Iaphosphomannomutase 2 deficiencyJaeken syndromePMM2-CDG (CDG-Ia)carbohydrate-deficient glycoprotein syndrome type 1Acarbohydrate-deficient glycoprotein syndrome type 1A (formerly)carbohydrate-deficient glycoprotein syndrome, type Iacarbohydrate-deficient glycoprotein syndrome, type Ia, formerlycongenital disorder of glycosylation, type Ia

Definition

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.