Epileptic encephalopathy in a young Bengal cat caused by CAD deficiency.

ABSTRACT: Developmental and epileptic encephalopathy type 50 (DEE50) in humans is a severe early-onset neurometabolic disorder caused by biallelic loss-of-function variants in the CAD gene encoding a key multi-enzymatic protein for de novo pyrimidine nucleotide synthesis. Untreated, the condition is often fatal, but patients respond to uridine supplementation, which fuels nucleotide synthesis through CAD-independent salvage pathways. Here, we report a novel variant in the feline CAD gene in a 4-month-old Bengal kitten with intractable seizures and abnormal behavior. The variant, XP_011279586.1:p.(Ser2015Asn), was predicted to affect the oligomerization of the C-terminal aspartate transcarbamylase (ATCase) domain of CAD. Genotyping of 110 unaffected Bengal cats revealed four additional carriers of th

SUBMITTER: Kaczmarska A 

PROVIDER: S-EPMC12008240 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature