Glucosyltransferase 2 deficiency (Q94033): 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 1H é caracterizada por graves manifestações gastrointestinais, edema, hepatomegalia, hipoalbuminemia, tubulopatia renal e anomalias de coagulação. Foi descrito em cinco crianças. O dismorfismo facial estava presente nos pacientes mais gravemente afetados. Catarata e osteopenia às vezes também estavam presentes. A síndrome está associada a mutações no gene ALG8 (localizado na região pter-p15.5 no cromossomo 11) levando a uma deficiência na enzima alfa-3-glucosil transferase do retículo endoplasmático. | |||
| description / en | description / en | ||
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ih is characterised by severe gastrointestinal manifestations, oedema, hepatomegaly, hypoalbuminaemia, a renal tubulopathy and coagulation anomalies. It has been described in five children. Facial dysmorphism was present in the more severely affected patients. Cataract and osteopaenia were also sometimes present. The syndrome is associated with mutations in the ALG8 gene (localised to the pter-p15.5 region on chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-3-glucosyl transferase. | |||
Revision as of 09:08, 16 August 2026
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ih is characterised by severe gastrointestinal manifestations, oedema, hepatomegaly, hypoalbuminaemia, a renal tubulopathy and coagulation anomalies. It has been described in five children. Facial dysmorphism was present in the more severely affected patients. Cataract and osteopaenia were also sometimes present. The syndrome is associated with mutations in the ALG8 gene (localised to the pter-p15.5 region on chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-3-glucosyl transferase.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1039779684 |
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| English | Glucosyltransferase 2 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ih is characterised by severe gastrointestinal manifestations, oedema, hepatomegaly, hypoalbuminaemia, a renal tubulopathy and coagulation anomalies. It has been described in five children. Facial dysmorphism was present in the more severely affected patients. Cataract and osteopaenia were also sometimes present. The syndrome is associated with mutations in the ALG8 gene (localised to the pter-p15.5 region on chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-3-glucosyl transferase. |
