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.
|Numero di pagine||0|
|Stato di pubblicazione||Published - 2017|
All Science Journal Classification (ASJC) codes
- Internal Medicine
- Endocrinology, Diabetes and Metabolism
- Biochemistry, Genetics and Molecular Biology (miscellaneous)
Cefalu', A. B., Cisarò, F., Porta, F., Jaeken, J., Pinon, M., Reggiani, S., Lefeber, D. J., Sturiale, L., Spada, M., Rabbone, I., Garozzo, D., & Calvo, P. L. (2017). An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. JIMD Reports.