Catalog

Citrullinaemia type 1

No MMS code

Link to WHO Definition

Citrullinaemia type 1 – http://id.who.int/icd/entity/1410274578

Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, ) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, ).