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An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia

  • Autori: Calvo, P.; Spada, M.; Rabbone, I.; Pinon, M.; Porta, F.; Cisarò, F.; Reggiani, S.; Cefalu', A.; Sturiale, L.; Garozzo, D.; Lefeber, D.; Jaeken, J.
  • Anno di pubblicazione: 2018
  • Tipologia: Articolo in rivista (Articolo in rivista)
  • Parole Chiave: CDG-II; Hypercholesterolemia; Hypoceruloplasminemia; Neurohepatic involvement;
  • OA Link:


We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since the biological parents of this adopted child were not available.