Ontology highlight
ABSTRACT:
SUBMITTER: Millon MB
PROVIDER: S-EPMC3509812 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Millón M B Bistué MB Delgado M A MA Azar N B NB Guelbert N N Sturiale L L Garozzo D D Matthijs G G Jaeken J J de Kremer Raquel Dodelson RD Asteggiano C G CG
JIMD reports 20110622
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 ret ...[more]