Glucosyltransferase 1 deficiency (Q94035): Difference between revisions
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As síndromes CDG (doenças congênitas de glicosilação) são um grupo de doenças autossômicas recessivas que afetam a síntese de glicoproteínas. A síndrome CDG tipo Ic é caracterizada por retardo psicomotor e hipotonia muscular. Ela foi descrita em mais de 30 indivíduos até agora. Manifestações hepáticas e intestinais também foram frequentemente relatadas. Anomalias de coagulação, anormalidades hormonais e convulsões também podem estar presentes, às vezes sendo fatais. A síndrome é causada por mutações no gene ALG6 (localizado na região q22.3 do cromossomo 1), levando a uma deficiência da enzima alfa1,3-glucosiltransferase 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 Ic is characterised by psychomotor delay and muscular hypotonia. It has been described in more than 30 individuals so far. Hepatic and intestinal manifestations were also often reported. Coagulation anomalies, hormonal abnormalities and seizures may also be present and life-threatening. The syndrome is caused by mutations in the ALG6 gene (localised to the q22.3 region of chromosome 1) leading to a deficiency of the endoplasmic reticulum enzyme alpha1,3-glucosyltransferase. | |||
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 Ic is characterised by psychomotor delay and muscular hypotonia. It has been described in more than 30 individuals so far. Hepatic and intestinal manifestations were also often reported. Coagulation anomalies, hormonal abnormalities and seizures may also be present and life-threatening. The syndrome is caused by mutations in the ALG6 gene (localised to the q22.3 region of chromosome 1) leading to a deficiency of the endoplasmic reticulum enzyme alpha1,3-glucosyltransferase.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_603963810 |
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| English | Glucosyltransferase 1 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ic is characterised by psychomotor delay and muscular hypotonia. It has been described in more than 30 individuals so far. Hepatic and intestinal manifestations were also often reported. Coagulation anomalies, hormonal abnormalities and seizures may also be present and life-threatening. The syndrome is caused by mutations in the ALG6 gene (localised to the q22.3 region of chromosome 1) leading to a deficiency of the endoplasmic reticulum enzyme alpha1,3-glucosyltransferase. |
