Mannosyltransferase 1 deficiency (Q94039): 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 1K é caracterizada por retardo psicomotor, convulsões, microcefalia e anomalias de coagulação. Outras manifestações (disfunção hepática, cardiomiopatia, síndrome nefrótica, hipogonadismo e infecções graves) também podem estar presentes. Foi descrito em quatro meninos, três dos quais morreram no primeiro ano de vida. A síndrome está associada a mutações no gene ALG (localizado na região p13.3 do cromossomo 16) levando a uma deficiência na enzima beta-1,4-manosiltransferase 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 Ik is characterised by psychomotor delay, seizures, microcephaly and coagulation anomalies. Other manifestations (hepatic dysfunction, cardiomyopathy, nephrotic syndrome, hypogonadism and severe infections) may also be present. It has been described in four boys, three of whom died within the first year of life. The syndrome is associated with mutations in the ALG gene (localised to the p13.3 region of chromosome 16) leading to a deficiency in the endoplasmic reticulum enzyme beta-1,4-mannosyltransferase. | |||
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 Ik is characterised by psychomotor delay, seizures, microcephaly and coagulation anomalies. Other manifestations (hepatic dysfunction, cardiomyopathy, nephrotic syndrome, hypogonadism and severe infections) may also be present. It has been described in four boys, three of whom died within the first year of life. The syndrome is associated with mutations in the ALG gene (localised to the p13.3 region of chromosome 16) leading to a deficiency in the endoplasmic reticulum enzyme beta-1,4-mannosyltransferase.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_836240672 |
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| English | Mannosyltransferase 1 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ik is characterised by psychomotor delay, seizures, microcephaly and coagulation anomalies. Other manifestations (hepatic dysfunction, cardiomyopathy, nephrotic syndrome, hypogonadism and severe infections) may also be present. It has been described in four boys, three of whom died within the first year of life. The syndrome is associated with mutations in the ALG gene (localised to the p13.3 region of chromosome 16) leading to a deficiency in the endoplasmic reticulum enzyme beta-1,4-mannosyltransferase. |
