TY - JOUR
T1 - An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia
AU - Calvo, P. L.
AU - Spada, M.
AU - RABBONE, IVANA
AU - Pinon, M.
AU - Porta, F.
AU - Cisaro, F.
AU - Reggiani, S.
AU - Cefalu, A. B.
AU - Sturiale, L.
AU - Garozzo, D.
AU - Lefeber, D. J.
AU - Jaeken, J.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - CDG-II
KW - Hypercholesterolemia
KW - Hypoceruloplasminemia
KW - Neurohepatic involvement
KW - CDG-II
KW - Hypercholesterolemia
KW - Hypoceruloplasminemia
KW - Neurohepatic involvement
UR - https://iris.uniupo.it/handle/11579/111742
U2 - 10.1007/8904_2017_35
DO - 10.1007/8904_2017_35
M3 - Article
SN - 2192-8304
VL - 38
SP - 97
EP - 100
JO - JIMD Reports
JF - JIMD Reports
ER -