Beta-1,4-galactosyltransferase deficiency (Q90009): Difference between revisions
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CID11:ID_2127970541 | |||||||||||||||
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dki-india-ID_2127970541 | |||||||||||||||
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13 August 2026
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Latest 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 |
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| 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. |
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CID11:ID_2127970541
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dki-india-ID_2127970541
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Concluído
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13 August 2026
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