Screening Using Serum Percentage of Carbohydrate-Deficient Transferrin for Congenital Disorders of Glycosylation in Children with Suspected Metabolic Disease
Open Access
- 1 January 2008
- journal article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 54 (1), 93-100
- https://doi.org/10.1373/clinchem.2007.093450
Abstract
Background: Diagnoses of congenital disorders of glycosylation (CDG) are based on clinical suspicion and analysis of transferrin (Tf) isoforms. Here we present our experience of CDG screening in children with a suspected metabolic disease by determination of serum percentage of carbohydrate-deficient transferrin (%CDT) in tandem with isoelectric focusing (IEF) analysis of Tf and α1-antitrypsin (α1-AT).Keywords
This publication has 31 references indexed in Scilit:
- A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early InfancyAmerican Journal of Human Genetics, 2007
- COG8 deficiency causes new congenital disorder of glycosylation type IIhHuman Molecular Genetics, 2007
- A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formationHuman Molecular Genetics, 2007
- Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type IaJournal of Inherited Metabolic Disease, 2006
- Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporterBlood, 2005
- Gangliosides help stabilize the brainNature Genetics, 2004
- Increased serum levels of carbohydrate-deficient transferrin in patients with chronic obstructive pulmonary diseaseScandinavian Journal of Clinical and Laboratory Investigation, 2001
- Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.JCI Insight, 1998
- Carbohydrate‐deficient transferrin values in neonatal and umbilical cord bloodJournal of Inherited Metabolic Disease, 1996
- Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type IFEBS Letters, 1995