Catalog

Dolichol-phosphate-mannose synthase 1 deficiency

No MMS code

Link to WHO Definition

Dolichol-phosphate-mannose synthase 1 deficiency – http://id.who.int/icd/entity/561449953

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. The syndrome has been described in seven children. It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1.