Carbohydrate deficient glycoprotein syndrome type 1a (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

Chemwatch
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