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There are two main types of protein glycosylation: N\u2010glycosylation and O\u2010glycosylation. N\u2010glycosylation generally consists of an assembly pathway (in cytosol and endoplasmic reticulum) and a processing pathway (in endoplasmic reticulum and Golgi). O\u2010glycosylation lacks a processing pathway but is otherwise more complex. Sixteen disease\u2010causing defects are known in protein glycosylation: 12 in N\u2010glycosylation and four in O\u2010glycosylation. The N\u2010glycosylation defects comprise eight assembly defects (CDG\u2010I) designated CDG\u2010Ia to CDG\u2010Ih, and four processing defects (CDG\u2010II) designated CDG\u2010IIa to CDG\u2010IId. By far the most frequent is CDG\u2010Ia (phosphomannomutase\u20102 deficiency). It affects the nervous system and many other organs. Its clinical expression varies from extremely severe to very mild (and thus probably underdiagnosed). The most interesting disease in this group is CDG\u2010Ib (phosphomannose isomerase deficiency) because it is so far the only efficiently treatable CDG (mannose treatment). It hasahepatic\u2013intestinal presentation. The O\u2010glycosylation defects comprise two O\u2010xylosylglycan defects (a progeroid variant of Ehlers\u2013Danlos syndrome and the multiple exostoses syndrome) and two O\u2010mannosylglycan defects (Walker\u2013Warburg syndrome and muscle\u2013eye\u2013brain disease). All known CDGs have a recessive inheritance except for multiple exostoses syndrome, which is dominantly inherited. There is a rapidly growing group of putative CDGs with a large spectrum of clinical presentations (CDG\u2010x). Serum transferrin isoelectrofocusing remains the cornerstone of the screening for N\u2010glycosylation defects associated with sialic acid deficiency. Abnormal patterns can be grouped in to type 1 and type 2. However, a normal pattern does not exclude these defects. Screening for the other CDGs is much more difficult, particularly when the defect is organ\u2010 or system\u2010restricted. The latter group promises to become an important new chapter in CDG. It is concluded that CDGs will eventually cover the whole clinical spectrum of paediatric and adult disease manifestations.<\/jats:p>","DOI":"10.1023\/a:1024431131208","type":"journal-article","created":{"date-parts":[[2003,9,15]],"date-time":"2003-09-15T17:22:37Z","timestamp":1063646557000},"page":"99-118","source":"Crossref","is-referenced-by-count":116,"title":["Congenital disorders of glycosylation (CDG): It's all in it!"],"prefix":"10.1002","volume":"26","author":[{"given":"J.","family":"Jaeken","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Centre for Metabolic Disease University Hospital Gasthuisberg  Herestraat 49 Leuven B\u20103000 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70115-5"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0962-8924(01)01925-0"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/8.3.285"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.8.1850"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-20407"},{"key":"e_1_2_1_7_1","first-page":"23","article-title":"Assessment of skeletal status in patients with congenital disorder of glycosylation type Ia","volume":"24","author":"Barone R","year":"2002","journal-title":"Int J Tissue React"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/342975"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M202276200"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2001.0483"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/324412"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.25.2851"},{"key":"e_1_2_1_13_1","first-page":"187","article-title":"Yet another congenital disorder of glycosylation! 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