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: http://hdl.handle.net/10447/247988
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.