Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy.

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Research Abstract Details 

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Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Abstract Text:

V Peters,J M Penzien,G Reiter,C ,R Hackler,B Assmann,J Fang,J R Schaefer,G F Hoffmann,P H Heidemann,V Peters,J M Penzien,G Reiter,C ,R Hackler,B Assmann,J Fang,J R Schaefer,G F Hoffmann,P H Heidemann,

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.

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Publishing Authors By Initials

V Peters,JM Penzien,G Reiter,C ,R Hackler,B Assmann,J Fang,JR Schaefer,GF Hoffmann,PH Heidemann,V Peters,JM Penzien,G Reiter,C ,R Hackler,B Assmann,J Fang,JR Schaefer,GF Hoffmann,PH Heidemann,

For similar musculoskeletal diseases: muscular diseases research abstracts see: musculoskeletal diseases: muscular diseases research

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Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neuropediatrics

VOLUME: 33

Page Numbers: 27-32

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: Feb

YEAR: 2002

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Information

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LANGUAGE: eng

NlmUniqueID: 8101187

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Keywords Mesh Terms:

KEYWORDS: Muscular Diseases

MESH TERMS: complications

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Grant and Affiliation Information for Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy.

AFFILIATION: Universitäts-Kinderklinik, Sektion für Metabolische und Endokrinologische Erkrankungen, Heidelberg, Germany. Verena_Peters@med.uni-heidelberg.de

Country: Germany

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MEDLINETA: Neuropediatrics

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