Catalog

Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency

No MMS code

Link to WHO Definition

Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency – http://id.who.int/icd/entity/409877897

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ij is characterised by severe psychomotor delay, seizures, hypotonia and dysmorphism (microcephaly, ocular exotropia, micrognathia and clinodactyly). To date, it has been reported in one girl. The syndrome is caused by a mutation in the gene (localised to the q23.3 region of chromosome 11) encoding the endoplasmic reticulum enzyme UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase (DPAGT1).