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, Stefania Reggiani, Dirk J. Lefeber, Luisella Sturiale, Marco Spada, Ivana Rabbone, Domenico Garozzo, Pier Luigi Calvo

Risultato della ricerca: Articlepeer 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 originaleEnglish
pagine (da-a)97-100
Numero di pagine4
RivistaJIMD Reports
Volume38
Stato di pubblicazionePublished - 2018

All Science Journal Classification (ASJC) codes

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

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