An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia

Calvo, P.; Spada, M.; Rabbone, I.; Pinon, M.; Porta, F.; Cisarò, F.; Reggiani, S.; Cefalù, A.; Sturiale, L.; Garozzo, D.; Lefeber, D.; Jaeken, J.

Risultato della ricerca: Article

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.
Lingua originaleEnglish
pagine (da-a)-
Numero di pagine0
RivistaJIMD Reports
Stato di pubblicazionePublished - 2017

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Hypercholesterolemia
Serum
Factor XI
Exome
Absence Epilepsy
Haptoglobins
Antithrombins
Transferrin
Transaminases
Glycosylation
Alkaline Phosphatase
Immunoglobulins
Copper
Parents
Cholesterol
Genome
Brain
Genes
Familial apoceruloplasmin deficiency
Congenital disorder of glycosylation type II

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Calvo, P.; Spada, M.; Rabbone, I.; Pinon, M.; Porta, F.; Cisarò, F.; Reggiani, S.; Cefalù, A.; Sturiale, L.; Garozzo, D.; Lefeber, D.; Jaeken, J. (2017). An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. JIMD Reports, -.

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. / Calvo, P.; Spada, M.; Rabbone, I.; Pinon, M.; Porta, F.; Cisarò, F.; Reggiani, S.; Cefalù, A.; Sturiale, L.; Garozzo, D.; Lefeber, D.; Jaeken, J.

In: JIMD Reports, 2017, pag. -.

Risultato della ricerca: Article

Calvo, P.; Spada, M.; Rabbone, I.; Pinon, M.; Porta, F.; Cisarò, F.; Reggiani, S.; Cefalù, A.; Sturiale, L.; Garozzo, D.; Lefeber, D.; Jaeken, J. 2017, 'An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia', JIMD Reports, pagg. -.
Calvo, P.; Spada, M.; Rabbone, I.; Pinon, M.; Porta, F.; Cisarò, F.; Reggiani, S.; Cefalù, A.; Sturiale, L.; Garozzo, D.; Lefeber, D.; Jaeken, J. An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. JIMD Reports. 2017;-.
Calvo, P.; Spada, M.; Rabbone, I.; Pinon, M.; Porta, F.; Cisarò, F.; Reggiani, S.; Cefalù, A.; Sturiale, L.; Garozzo, D.; Lefeber, D.; Jaeken, J. / An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. In: JIMD Reports. 2017 ; pagg. -.
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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.",
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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.

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

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