CDG-Id in two siblings with partially different phenotypes.
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.
Kranz
Christian
C
Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute for Medical Research, 10901 N. Torrey Pines Road, La Jolla, CA 92037, USA.
Sun
Liangwu
L
Eklund
Erik A
EA
Krasnewich
Donna
D
Casey
Janet R
JR
Freeze
Hudson H
HH
D001766:Blindness / Q000175:diagnosis / Q000209:etiology; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005816:Genetic Complementation Test; D006031:Glycosylation; D006579:Heterozygote; D006801:Humans; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics*; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000209:etiology; D009154:Mutation; D010641:Phenotype; D012640:Seizures / Q000175:diagnosis / Q000209:etiology; D035781:Siblings
D018076:DNA, Complementary; C489947:ALG3 protein, human; D008364:Mannosyltransferases