1. Een zuigeling met 'failure to thrive' en ontwikkelingsachterstand
- Author
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Wamelink, M. M.C., Starreveld, J. S., Van Der Knaap, M. S., Verhoeven, N. M., and Jakobs, C.
- Subjects
carbohydrates (lipids) ,congenital, hereditary, and neonatal diseases and abnormalities ,animal structures ,lipids (amino acids, peptides, and proteins) ,macromolecular substances - Abstract
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders with a defect in protein glycosylation. Since the discovery of the phosphomannomutase-deficiency causing CDG-Ia in 1995, 17 different defects in protein glycosylation have been described, 13 with a defect in the N-glycosylation and 4 with a defect in the O-glycosylation. The different types of CDG are clinically very distinct, which makes it extra difficult to diagnose these patients. We present a case of a typical CDG-Ia patient.
- Published
- 2003