TY - CHAP
T1 - An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia
AU - Calvo, Pier Luigi
AU - Spada, Marco
AU - Rabbone, Ivana
AU - Pinon, Michele
AU - Porta, Francesco
AU - Cisarò, Fabio
AU - Reggiani, Stefania
AU - Cefalù, Angelo B.
AU - Sturiale, Luisella
AU - Garozzo, Domenico
AU - Lefeber, Dirk J.
AU - Jaeken, Jaak
N1 - Publisher Copyright:
© 2017, SSIEM and Springer-Verlag Berlin Heidelberg.
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
UR - http://www.scopus.com/inward/record.url?scp=85060337887&partnerID=8YFLogxK
U2 - 10.1007/8904_2017_35
DO - 10.1007/8904_2017_35
M3 - Chapter
AN - SCOPUS:85060337887
T3 - JIMD Reports
SP - 97
EP - 100
BT - JIMD Reports
PB - SPRINGER
ER -