JIMD Reports, Volume 38

Calvo, Pier Luigi, Spada, Marco, Rabbone, Ivana, Pinon, Michele, Porta, Francesco, Cisarò, Fabio, Reggiani, Stefania, Cefalù, Angelo B., Sturiale, Luisella, Garozzo, Domenico, Lefeber, Dirk J., Jaeken, Jaak, Pier Luigi Calvo, Marco Spada, Ivana Rabbone, Michele Pinon, Francesco Porta, Fabio Cisarò, Stefania Reggiani, Angelo B. Cefalù, Luisella Sturiale, Domenico Garozzo, Dirk J. Lefeber, Jaak Jaeken

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.