title: Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy.
abstract: A 1.5-year-old boy with macrocephaly due to a Dandy-Walker malformation presented with progressive hydrocephalus, extensive muscular hypotonia, transient cholestatic syndrome, extensive coagulation abnormalities and elevated creatine kinase indicating myopathy. Diagnostic work-up indicated a congenital disorder of glycosylation (CDG, formerly carbohydrate deficient glycoprotein syndrome). The serum transferrin pattern obtained by automated isoelectric focusing (IEF) showed an hitherto unreported pattern with strongly elevated tri-, di-, mono- and asialotransferrin bands, increasing in this order together with markedly decreased tetrasialotransferrin. Investigation of two additional glycoproteins, alpha(1)-antitrypsin and alpha(1)-antichymotrypsin, confirmed a generalised defect of glycosylation. All known glycosylation defects could be ruled out by enzymatic analyses in either leukocytes or fibroblasts or by the results obtained by IEF. SDS-electrophoresis demonstrated a marked difference in the molecular weight of transferrin, suggesting the lack of parts or of all oligosaccharide chains. The defect could be delineated to a deficiency of beta-1,4-galactosyltransferase (E.C.2.4.1.38) due to a homozygous insertion (1031 - 1032 insC). Details of the biochemical and molecular findings will be described elsewhere.
authors.affiliation: Universitäts-Kinderklinik, Sektion für Metabolische und Endokrinologische Erkrankungen, Heidelberg, Germany. Verena_Peters@med.uni-heidelberg.de
authors.forename: V
authors.initials: V
authors.lastname: Peters
authors.forename: J M
authors.initials: JM
authors.lastname: Penzien
authors.forename: G
authors.initials: G
authors.lastname: Reiter
authors.forename: C
authors.initials: C
authors.lastname: Körner
authors.forename: R
authors.initials: R
authors.lastname: Hackler
authors.forename: B
authors.initials: B
authors.lastname: Assmann
authors.forename: J
authors.initials: J
authors.lastname: Fang
authors.forename: J R
authors.initials: JR
authors.lastname: Schaefer
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: P H
authors.initials: PH
authors.lastname: Heidemann
mesh_terms: D000293:Adolescent; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000175:diagnosis*; D003616:Dandy-Walker Syndrome / Q000150:complications*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000150:complications*