N-acetylglucosaminyltransferase deficiency (Q94050)
From determinar.ia.br - Determine suas informações
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 |
|---|---|---|---|
| default for all languages | ID_650208613 |
||
| 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). |
Statements
CID11:ID_650208613
0 references
dki-india-ID_650208613
0 references
Concluído
0 references
15 August 2026
0 references
