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Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature

2005; Springer Science+Business Media; Volume: 28; Issue: 6 Linguagem: Inglês

10.1007/s10545-005-0137-3

1573-2665

Mattia Rocco, Thierry Hennet, Claudia E. Grubenmann, Severo Pagliardini, Anna Elsa Maria Allegri, Christian Frank, Markus Aebi, Silvia Vignola, J. Jaeken,

Infant Nutrition and Health

Summary We report a new patient with CDG Ig and review the five other known patients. From the data on this small number of patients, it seems that the association of psychomotor retardation, male hypogenitalism and decreased serum IgG in a patient with a type 1 pattern of serum sialotransferrins might be a clue to the diagnosis of CDG Ig.