Catalog

Component of conserved oligomeric Golgi complex 8 deficiency

No MMS code

Link to WHO Definition

Component of conserved oligomeric Golgi complex 8 deficiency – http://id.who.int/icd/entity/677932376

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.