CAD

Gene product: This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase.

Protein function: Related to the enzymatic activities of the first three enzymes in the six-step pathway of pyrimidine biosynthesis.

Phenotype: Developmental and epileptic encephalopathy 50 (AR) [1].

Mutation database:  ClinVar.

Clinical research: PubMed (PMID: 25678555 (Hum Mol Genet)).

Medication reminder: Uridine supplementation is effective in treating this disease.

References:

1. Ng, B. G., et al. (2015). "Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors." Hum Mol Genet 24(11): 3050-3057.