Glucosidase 1 deficiency (Q94045): Difference between revisions
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As síndromes CDG (distúrbios congênitos de glicosilação) são um grupo de doenças autossômicas recessivas que afetam a síntese de glicoproteínas. A síndrome CDG tipo 2B é caracterizada por hepatomegalia, hipoventilação, convulsões e problemas de alimentação. Até o momento, foi relatado em apenas uma criança que morreu nos primeiros três meses de vida. A síndrome está associada a uma deficiência da enzima do retículo endoplasmático, glicosidase I. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
