CDGS meaning in Medical ?

Answer:

What is Carbohydrate deficient glycoprotein syndrome mean?

A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. The most common sub-type is PMM2-CDG (formally known as CDG-Ia) where the genetic defect leads to the loss of phosphomannomutase 2 (PMM2), the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.

reference

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Capital District Genealogical Society	Academic & Science
Courseware Development Grant Scheme	Community
Corel Draw Graphics Suite	Computing
Center for Diversity and Gender Studies	General
Carbohydrate deficient glycoprotein syndrome	Medical
Carbohydrate Deficient Glycoprotein Syndromes	Medical
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