An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia

Angelo Baldassare Cefalu'; Fabio Cisarò; Francesco Porta; Jaak Jaeken; Michele Pinon; Marco Spada; Stefania Reggiani; Dirk J. Lefeber; Luisella Sturiale; Marco Spada; Marco Spada; Marco Spada; Ivana Rabbone; Luisella Sturiale; Domenico Garozzo; Pier Luigi Calvo

An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia

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

Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro”

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	97-100
Number of pages	4
Journal	JIMD Reports
Volume	38
Publication status	Published - 2018

All Science Journal Classification (ASJC) codes

Internal Medicine
Endocrinology, Diabetes and Metabolism
Biochemistry, Genetics and Molecular Biology (miscellaneous)

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Cefalu', A. B., Cisarò, F., Porta, F., Jaeken, J., Pinon, M., Spada, M., Reggiani, S., Lefeber, D. J., Sturiale, L., Spada, M., Spada, M., Spada, M., Rabbone, I., Sturiale, L., Garozzo, D., & Calvo, P. L. (2018). An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia. JIMD Reports, 38, 97-100.

Cefalu', AB, Cisarò, F, Porta, F, Jaeken, J, Pinon, M, Spada, M, Reggiani, S, Lefeber, DJ, Sturiale, L, Spada, M, Spada, M, Spada, M, Rabbone, I, Sturiale, L, Garozzo, D & Calvo, PL 2018, 'An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia', JIMD Reports, vol. 38, pp. 97-100.

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title = "An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia",

abstract = "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.",

keywords = "CDG-II, Hypercholesterolemia, Hypoceruloplasminemia, Neurohepatic involvement, CDG-II, Hypercholesterolemia, Hypoceruloplasminemia, Neurohepatic involvement",

author = "Cefalu', {Angelo Baldassare} and Fabio Cisar{\`o} and Francesco Porta and Jaak Jaeken and Michele Pinon and Marco Spada and Stefania Reggiani and Lefeber, {Dirk J.} and Luisella Sturiale and Marco Spada and Marco Spada and Marco Spada and Ivana Rabbone and Luisella Sturiale and Domenico Garozzo and Calvo, {Pier Luigi}",

year = "2018",

language = "English",

volume = "38",

pages = "97--100",

journal = "JIMD Reports",

issn = "2192-8304",

publisher = "Springer Berlin",

}

TY - JOUR

T1 - An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia

AU - Cefalu', Angelo Baldassare

AU - Cisarò, Fabio

AU - Porta, Francesco

AU - Jaeken, Jaak

AU - Pinon, Michele

AU - Spada, Marco

AU - Reggiani, Stefania

AU - Lefeber, Dirk J.

AU - Sturiale, Luisella

AU - Spada, Marco

AU - Rabbone, Ivana

AU - Sturiale, Luisella

AU - Garozzo, Domenico

AU - Calvo, Pier Luigi

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

M3 - Article

SN - 2192-8304

VL - 38

SP - 97

EP - 100

JO - JIMD Reports

JF - JIMD Reports

ER -

An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia

Abstract

All Science Journal Classification (ASJC) codes

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