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

P. L. Calvo, M. Spada, IVANA RABBONE, M. Pinon, F. Porta, F. Cisaro, S. Reggiani, A. B. Cefalu, L. Sturiale, D. Garozzo, D. J. Lefeber, J. Jaeken

Risultato della ricerca: Contributo su rivistaArticolo in rivistapeer 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
pagine (da-a)97-100
Numero di pagine4
RivistaJIMD Reports
Volume38
DOI
Stato di pubblicazionePubblicato - 2018

Keywords

  • CDG-II
  • Hypercholesterolemia
  • Hypoceruloplasminemia
  • Neurohepatic involvement

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