Congenital disorder of glycosylation, type ia

Symptoms

What are the main symptoms of congenital disorder of glycosylation type 1A?

The main symptoms of congenital disorder of glycosylation type 1A (CDG-Ia) are developmental delay, cerebellar abnormalities (changes in the part of the brain that coordinates movement), peripheral neuropathy (reduced sensation and weakness in the arms and legs), stroke-like episodes, seizures, vision issues, strabismus (eye that do not look in the same direction), skeletal abnormalities, and liver issues. The various types of the condition also have certain features specific to that type.

The best person to figure out whether an individual has CDG-Ia is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Serrano M, et al. 2015. Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment. Orphanet Journal of Rare Diseases. Doi: 10.1186/s13023-015-0358-y. [PubMed]

PMM2-CDG (CDG-Ia). Gene Reviews. http://www.ncbi.nlm.nih.gov/books/NBK1110/

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