Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II

The carbohydrate deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic disorders with severe nervous system involvement. This report is on a child with a CDG syndrome that differs from the classical picture but is very similar to a patient reported in 1991. Both these patients...

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Bibliographic Details
Published in:Archives of disease in childhood 1994-08, Vol.71 (2), p.123-127
Main Authors: Jaeken, J, Schachter, H, Carchon, H, De Cock, P, Coddeville, B, Spik, G
Format: Article
Language:English
Subjects:
Biological and medical sciences
Carbohydrate Metabolism, Inborn Errors - blood
Carbohydrate Metabolism, Inborn Errors - classification
Carbohydrate Metabolism, Inborn Errors - enzymology
Carbohydrate Sequence
Cerebellum
Child
Errors of metabolism
Fibroblasts - enzymology
Glucosaminyltransferase
Glycoproteins - metabolism
Glycosylation
Golgi apparatus
Golgi Apparatus - enzymology
Humans
Hypoplasia
Intellectual disabilities
Isoelectric Focusing
Male
Medical sciences
Metabolic diseases
Molecular Sequence Data
N-Acetylglucosaminyltransferases - deficiency
N-Acetylglucosinyldiphosphodolichol N-acetylglucosaminyltransferase
Nervous system
Pediatrics
Peripheral neuropathy
Proteins and glycoproteins
Transferrin - analysis
Transferrins
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Summary:The carbohydrate deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic disorders with severe nervous system involvement. This report is on a child with a CDG syndrome that differs from the classical picture but is very similar to a patient reported in 1991. Both these patients are therefore designated CDG syndrome type II. Compared with type I patients they have a more severe psychomotor retardation but no peripheral neuropathy nor cerebellar hypoplasia. The serum transferrin isoform pattern obtained by isoelectric focusing showed disialotransferrin as the major fraction. The serum disialotransferrin, studied in the present patient, contained two moles of truncated monoantennary Sialyl-Gal-GlcNAc-Man(alpha 1-->3)[Man(alpha 1-->6)]Man(beta 1-->4)GlcNAc (beta 1-->4)GlcNAc-Asn per mole of transferrin. A profoundly deficient activity of the Golgi enzyme N-acetylglucosaminyltransferase II (EC 2.4.1.143) was demonstrated in fibroblasts.
ISSN:0003-9888
1468-2044
DOI:10.1136/adc.71.2.123