Carbohydrate deficiency glycoprotein syndrome type 1A previously known as (medical condition)

A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function. See also Congenital disorder of glycosylation type 1A