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CDG-Id in two siblings with partially different phenotypes

✍ Scribed by Christian Kranz; Liangwu Sun; Erik A. Eklund; Donna Krasnewich; Janet R. Casey; Hudson H. Freeze

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
200 KB
Volume
143A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

We present two sibs with congenital disorder of glycosylation (CDG) type Id. Each shows severe global delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency. One sib has more severe digestive issues, while the other is more neurologically impaired. Each is compound heterozygous for a novel point mutation and an already known mutation in the ALG3 gene that leads to the synthesis of a severely truncated oligosaccharide precursor for N‐glycans. The defect is corrected by introduction of a normal ALG3 cDNA. CDG should be ruled out in all patients with severe seizures and failure to thrive. © 2007 Wiley‐Liss, Inc.

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