Congenital Disorder of Glycosylation, Type Ia (CDG1A)

Congenital Disorder of Glycosylation, Type Ia, also known as pmm2-congenital disorder of glycosylation, is related to congenital disorder of glycosylation, type ic and congenital disorder of glycosylation, type iik, and has symptoms including ataxia, diarrhea and seizures. An important gene associated with Congenital Disorder of Glycosylation, Type Ia is PMM2 (Phosphomannomutase 2), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. The drugs Sorbitol and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotypes are high palate and strabismus