Glucosidase 1 deficiency (Q94045)
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The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIb is characterised by hepatomegaly, hypoventilation, seizures and feeding problems. To date, it has been reported in only one child who died within the first three months of life. The syndrome is associated with a deficiency in the endoplasmic reticulum enzyme, glucosidase I.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_959745817 |
||
| English | Glucosidase 1 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIb is characterised by hepatomegaly, hypoventilation, seizures and feeding problems. To date, it has been reported in only one child who died within the first three months of life. The syndrome is associated with a deficiency in the endoplasmic reticulum enzyme, glucosidase I. |
Statements
CID11:ID_959745817
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dki-india-ID_959745817
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Concluído
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15 August 2026
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