A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity

Journal of Inherited Metabolic Disease
J CharlwoodB Winchester

Abstract

The carbohydrate-deficient glycoprotein syndrome (CDGS) is a group of disorders characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. It has been classified into four forms on the basis of the isoelectric focusing pattern of serum transferrin and difference in clinical presentation. A deficiency of phosphomannomutase (PMM) has been reported in most patients with type 1. Seven of our eight CDGS patients, classified clinically as type 1, were shown to have a deficiency of phosphomannomutase in their fibroblast or lymphoblastoid cells (0.04-0.2 nmol/min per mg, compared with a control range of 1.0-2.1 nmol/min per mg). The eighth patient, who had many clinical features of the severe neonatal form of CDGS type 1, but lacked definite signs of CNS and ocular involvement, had a normal phosphomannomutase activity in his fibroblasts. There were approximately equal amounts of disialo- and tetrasialotransferrin and only a trace amount of asialotransferrin in the serum and ascitic fluid of this patient. The disialo- and tetrasialotransferrin isoforms were purified by ion-exchange chromatography and analysed by SDS-PAGE. The disialotransferrin had a lower molecular mass than the tetrasialotransferrin, co...Continue Reading

References

Dec 15, 1992·Biochemical and Biophysical Research Communications·Y WadaN Taniguchi
Sep 1, 1991·Archives of Disease in Childhood·S P HorslenB Winchester
Feb 1, 1995·Biochemical Society Transactions·B WinchesterG Keir
Oct 1, 1995·Neuropediatrics·H StiblerU Kutsch
Jan 1, 1997·Journal of Medical Genetics·J JaekenH Carchon

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Citations

Jun 6, 1998·Glycobiology·J CharlwoodB Winchester
May 9, 2000·Journal of Inherited Metabolic Disease·F ImtiazB Winchester
Aug 19, 2009·Journal of Inherited Metabolic Disease·K VeselaJ Zeman
Jan 28, 2006·Pediatric Research·Claudia MandatoPietro Vajro
Nov 1, 2002·Pediatric Research·Stephanie GrunewaldJaak Jaeken
Nov 26, 1999·Biochimica Et Biophysica Acta·H CarchonJ Jaeken
Jun 17, 1999·Annals of Clinical Biochemistry·G KeirP Clayton

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