Abstract
A 6-year-old male patient presented with Budd-Chiari syndrome and glycoprotein abnormalities associated with carbohydrate deficient glycoprotein syndrome type I with yet unidentified molecular defect (type Ix). Budd-Chiari syndrome most likely developed after hepatic venous thrombosis caused by coagulation abnormalities resulting from hypoglycosylation and functional impairment of anticoagulant proteins.
MeSH terms
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Blotting, Western
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Budd-Chiari Syndrome / etiology*
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Budd-Chiari Syndrome / surgery
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Child
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Coagulation Protein Disorders / complications*
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Coagulation Protein Disorders / etiology*
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Congenital Disorders of Glycosylation / blood
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Congenital Disorders of Glycosylation / classification
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Congenital Disorders of Glycosylation / complications*
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Congenital Disorders of Glycosylation / genetics
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Consanguinity
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Humans
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Intellectual Disability / genetics
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Male
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Mannose-6-Phosphate Isomerase / metabolism
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Phosphoglucomutase / metabolism
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Phosphotransferases (Phosphomutases) / metabolism
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Portasystemic Shunt, Transjugular Intrahepatic
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Transferrin / metabolism
Substances
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Transferrin
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Mannose-6-Phosphate Isomerase
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Phosphotransferases (Phosphomutases)
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Phosphoglucomutase
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phosphomannomutase