6533b831fe1ef96bd1298729
RESEARCH PRODUCT
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia
L SturialeIvana RabboneDirk LefeberPier Luigi CalvoS. ReggianiJaak JaekenMarco SpadaFrancesco PortaDomenico GarozzoMichele PinonFabio CisaròAngelo B. Cefalùsubject
Hypoceruloplasminemiacongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtySettore MED/09 - Medicina InternaUrinary systemHypercholesterolemiaArticleInternal medicineNeurohepatic involvementmedicineCDG-IIGlycomicsExome sequencingWhole genome sequencingchemistry.chemical_classificationbiologybusiness.industryHaptoglobinAntithrombinmedicine.diseaseDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]EndocrinologyMALDI TOFchemistryTransferrinbiology.proteinCDGAntibodybusinessCongenital disorder of glycosylationmedicine.drugdescription
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. 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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2017-01-01 |