N-acetylglucosaminyltransferase deficiency (Q94050): 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 2A é caracterizada por grave retardo psicomotor, retardo de crescimento pós-natal, dismorfologia facial e tendência ao sangramento. Foi descrito em quatro crianças. A síndrome está associada a mutações no gene MGAT2 (localizado na região q21 do cromossomo 14) levando a uma deficiência na enzima do aparelho de Golgi, N-acetilglucosaminil transferase (GlcNAc-T II). | |||
| description / en | description / en | ||
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIa is characterised by severe psychomotor delay, postnatal growth retardation, facial dysmorphology and bleeding tendency. It has been described in four children. The syndrome is associated with mutations in the MGAT2 gene (localised to the q21 region of chromosome 14) leading to a deficiency in the Golgi apparatus enzyme, N-acetylglucosaminyl transferase (GlcNAc-T II). | |||
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 IIa is characterised by severe psychomotor delay, postnatal growth retardation, facial dysmorphology and bleeding tendency. It has been described in four children. The syndrome is associated with mutations in the MGAT2 gene (localised to the q21 region of chromosome 14) leading to a deficiency in the Golgi apparatus enzyme, N-acetylglucosaminyl transferase (GlcNAc-T II).
| Language | Label | Description | Also known as |
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| default for all languages | ID_650208613 |
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| English | N-acetylglucosaminyltransferase deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIa is characterised by severe psychomotor delay, postnatal growth retardation, facial dysmorphology and bleeding tendency. It has been described in four children. The syndrome is associated with mutations in the MGAT2 gene (localised to the q21 region of chromosome 14) leading to a deficiency in the Golgi apparatus enzyme, N-acetylglucosaminyl transferase (GlcNAc-T II). |
