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

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

Risultato della ricerca: Capitolo in libro/report/atti di convegnoContributo in volume (Capitolo o Saggio)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.

Lingua originaleInglese
Titolo della pubblicazione ospiteJIMD Reports
EditoreSPRINGER
Pagine97-100
Numero di pagine4
DOI
Stato di pubblicazionePubblicato - 2018
Pubblicato esternamente

Serie di pubblicazioni

NomeJIMD Reports
Volume38
ISSN (stampa)2192-8304
ISSN (elettronico)2192-8312

Fingerprint

Entra nei temi di ricerca di 'An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia'. Insieme formano una fingerprint unica.

Cita questo