Abstract
Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N-glycosylation defects are divided into two groups (I and II). CDG group II (types IIa to IIe) refers to defects in the Golgi processing of protein-bound glycans. We report a patient with CDG IIx and an unusual phenotype.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Anemia, Hemolytic / etiology*
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Carbohydrate Metabolism, Inborn Errors / complications
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Carbohydrate Metabolism, Inborn Errors / genetics*
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Carbohydrate Metabolism, Inborn Errors / metabolism
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Carbohydrate Metabolism, Inborn Errors / psychology
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Chronic Disease
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Creatine Kinase / blood*
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Face / abnormalities*
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Glycosylation
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Humans
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Infant
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Male
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Phenotype
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Proteinuria / etiology*
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Psychomotor Performance*