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 subtype is<unk> -Ia (also referred to as PMM2-CDG) where the genetic defect leads to the loss of phosphomannomutase 2, the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.
Congenital disorder of glycosylation
GM1 gangliosidoses
Mucopolysaccharidosis
Sphingolipidoses
Inborn error of metabolism
Glycogen storage disease
Glycogen storage disease type XI
Hereditary fructose intolerance