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Title: Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?
Authors: Millón, M B Bistué ×
Delgado, M A
Azar, N B
Guelbert, N
Sturiale, L
Garozzo, D
Matthijs, Gert
Jaeken, Jaak
de Kremer, Raquel Dodelson
Asteggiano, C G #
Issue Date: 2011
Publisher: Springer
Series Title: JIMD Reports vol:1 pages:65-72
Article number: 10.1007/8904_2011_18
Abstract: Congenital disorders of glycosylation (CDG) are genetic diseases caused by abnormal protein and lipid glycosylation. In this chapter, we report the clinical, biochemical, and molecular findings in two siblings with an unidentified CDG (CDG-Ix). They are the first and the third child of healthy consanguineous Argentinean parents. Patient 1 is now a 11-year-old girl, and patient 2 died at the age of 4 months. Their clinical picture involved liver dysfunction in the neonatal period, psychomotor retardation, microcephaly, seizures, axial hypotonia, feeding difficulties, and hepatomegaly. Patient 1 also developed strabismus and cataract. They showed a type 1 pattern of serum sialotransferrin. Enzymatic analysis for phosphomannomutase and phosphomannose isomerase in leukocytes and fibroblasts excluded PMM2-CDG and MPI-CDG. Lipid-linked oligosaccharide (LLO) analysis showed a normal profile. Therefore, this result could point to a deficiency in the dolichol metabolism. In this context, ALG8-CDG, DPAGT1-CDG, and SRD5A3-CDG were analyzed and no defects were identified. In conclusion, we could not identify the genetic deficiency in these patients yet. Further studies are underway to identify the basic defect in them, taking into account the new CDG types that have been recently described.
URI: 
ISSN: 2192-8304
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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