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. 2018:38:97-100.
doi: 10.1007/8904_2017_35. Epub 2017 Jun 23.

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

Pier Luigi Calvo  1 , Marco Spada  2 , Ivana Rabbone  2 , Michele Pinon  3 , Francesco Porta  2 , Fabio Cisarò  3 , Stefania Reggiani  3 , Angelo B Cefalù  4 , Luisella Sturiale  5 , Domenico Garozzo  5 , Dirk J Lefeber  6 , Jaak Jaeken  7
Affiliations

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

Pier Luigi Calvo et al. JIMD Rep. 2018.

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.

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Figures

Fig. 1
Fig. 1
Transferrin isofocusing for analysis of protein N-glycosylation showed increased disialo- and trisialotransferrin; isofocusing of apoCIII for analysis of mucin type O-glycosylation showed increased apoCIII-1 and decreased ApoCIII-2
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