208 top medical experts on Congenital disorder of glycosylation type 1A across 23 countries and 14 U.S. states, including 27 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Congenital disorder of glycosylation type 1A: PMM2-CDG is 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.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
  • Synonyms: Carbohydrate-Deficient Glycoprotein Syndrome Type Ia,  Carbohydrate-deficient glycoprotein syndrome type 1A,  Congenital Disorder of Glycosylation Type Ia,  Type Ia Congenital Disorder of Glycosylation,  Jaeken syndrome,  PMM2 deficiency,  Phosphomannomutase 2 deficiency,  Pmm2-CDG


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