Catalog

Glucosidase 1 deficiency

No MMS code

Link to WHO Definition

Glucosidase 1 deficiency – http://id.who.int/icd/entity/959745817

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIb is characterised by hepatomegaly, hypoventilation, seizures and feeding problems. To date, it has been reported in only one child who died within the first three months of life. The syndrome is associated with a deficiency in the endoplasmic reticulum enzyme, glucosidase I.