Screening Using Serum Percentage of Carbohydrate-Deficient Transferrin for Congenital Disorders of Glycosylation in Children with Suspected Metabolic Disease

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 ␣ 1 -antitrypsin (␣ 1 -AT).

The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations

“…Analysis of serum transferrin was performed as previously described by %CDT, isoelectric focusing (IEF) (Pérez-Cerdá et al 2008;Colome et al 2000) or by high-pressure liquid chromatography (HPLC) or capillary zone electrophoresis ). PMM2 activity in lymphocytes and fibroblasts was determined essentially as described in Van Schaftingen and Jaeken 1995.…”

Du bon usage de la CDT et de certaines isoformes de la transferrine dans le repérage du mésusage alcoolique

“…Aujourd'hui, les faux-positifs sont principalement observés lors de pathologies hépatiques auto-immunes, lors d'atteintes hépatiques sévères (carcinomes, cirrhose [11][12][13]. Le sexe, l'âge, la prise d'estroprogestatifs, la ménopause exercent une légère influence sur ce paramètre [14].…”

Biomarkers and diagnosis of congenital disorders of glycosylation

“…These tests are also mostly suitable for the diagnosis of glycosylation disorders affecting transferrin glycosylation and are widely available in routine diagnostic laboratories [10][11][12]. However, most commercially available CDT tests do not differentiate the hypoglycosylated transferrin variants, but may be used as a screening tool for CDG [13].…”

“…The suitability of CDT tests in screening for CDG could be demonstrated [13,14]. If tests that do not differentiate between asialo-transferrin and disialo-transferrin are used, a further workup using IEF, HPLC or CZE is necessary in positive cases.…”