Abstract

Congenital disorders of glycosylation ( CDG ) are a large group of genetic diseases resulting from defects in the synthesis of glycans and in the attachment of glycans to other compounds. Since 1980, the first description of patients, 40 types of CDG ( including protein and lipid glycolysation defects ) have been discovered. CDGs affect all systems and particularly the CNS, except for CDG -Ib, which is mainly a hepatic-intestinal disease.CDGs must be kept in mind by the pediatricians in the differential diagnosis of the patients with unexplained neurologic findings ( psychomotor retardation, hypotonia, hyporeflexia, cerebellar hypoplasia, convulsion ), hypoglycemia, cholestasis, liver function disorders, coagulopathy, failure to thrive, ocular disorders and skeletal involvement. We present an infant girl with psychomotor retardation, growth retardation, facial dysmorphy, liver involvement, skeletal findings, hypoglycemia and type 2 pattern of sialotransferrins in isoelectric focusing

Keywords: Congenital disorder of glycosylation, type II, infant

References

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How to cite

1.
Özaydın E, Yalçın F, Gündüz M, Köse G. CONGENITAL DISORDER OF GLYCOSYLATION TYPE II. Turk J Pediatr Dis [Internet]. 2012 Dec. 1 [cited 2025 May 25];6(1):47-53. Available from: https://turkjpediatrdis.org/article/view/171