[MIM 616 457]

Prevalence: < 1/106. Autosomal recessive transmission or de novo mutation of the CAD gene (2p23.3) coding for a trifunctional protein that regroups carbamyl phosphate synthetase II, aspartate transcarbamylase and dihydroorotase. This protein is involved in the synthesis of pyrimidines. This deficiency leads to early convulsive encephalopathy type 50 also called CGD Ix (see hypoglycosylation of serum proteins).

Anesthetic implications:

encephalopathy with complex epilepsy

References :

Updated: August 2021