Beta-1,4-galactosyltransferase deficiency (Q90009): 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 2D é caracterizada por macrocefalia devido à malformação de Dandy-Walker, hidrocefalia, hipotonia, miopatia e anomalias de coagulação. Até o momento, apenas um caso foi relatado. A síndrome está associada a mutações no gene GALT1 (localizado na região q13 do cromossomo 9), levando a uma deficiência na enzima beta-1,4-galactosil transferase do aparelho de Golgi | |||
| description / en | description / en | ||
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IId is characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. | |||
Revision as of 16:56, 15 August 2026
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IId is characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2127970541 |
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| English | Beta-1,4-galactosyltransferase deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IId is characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. |
