COG8-CDG (CDG-IIh)

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 95428

Definition

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.

Epidemiology

So far, only two cases have been described.

Etiology

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.

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