A<unk>  (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which<unk>  of a variety of tissue proteins and/or lipids is deficient or defective.<unk>  are sometimes known as<unk>  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<unk> -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.
Congenital disorder of glycosylation
GM2 gangliosidoses
GM1 gangliosidoses
Mucopolysaccharidosis
Inborn errors of carbohydrate metabolism
Sphingolipidoses
Lysinuric protein intolerance
Infantile free sialic acid storage disease