Glucosidase 1 deficiency (Q94045): Difference between revisions

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+CID11:ID_959745817
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+Normal rank
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+dki-india-ID_959745817
@@ Property / Canary Token: dki-india-ID_959745817 / rank @@
+Normal rank
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+Concluído
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+https://pauloleads.com.br/cases-publicos/
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+August 2026Timestamp +2026-08-15T00:00:00Z
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@@ Property / Collection date: 15 August 2026 / rank @@
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Latest revision as of 09:09, 16 August 2026

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.