Catalog

CMP-sialic acid transporter deficiency

No MMS code

Link to WHO Definition

CMP-sialic acid transporter deficiency – http://id.who.int/icd/entity/480474610

Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage.