Catalog

Mannosyltransferase 2 deficiency

No MMS code

Link to WHO Definition

Mannosyltransferase 2 deficiency – http://id.who.int/icd/entity/1768777374

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ii is characterised by severe psychomotor delay, seizures, bilateral colobomas of the iris, cataract, nystagmus and coagulation anomalies. To date, the syndrome has been reported in only one girl. It is associated with a mutation in the ALG2 gene (localised to the q22 region of chromosome 9) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,3-mannosyl transferase.