期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 143A, 期 13, 页码 1414-1420出版社
WILEY
DOI: 10.1002/ajmg.a.31796
关键词
ALG3 deficiency; axial hypotonia; congenital disorder of glycosylation (CDG); disaccharidase deficiency; microcephaly
资金
- NIDDK NIH HHS [R01 DK 55615, F32 DK 072890] Funding Source: Medline
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. (c) 2007 Wiley-Liss, Inc.
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