Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:4.1.1.6 (
CAD
)
4,420
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
CAD
encodes a multifunctional enzyme involved in
de novo
pyrimidine biosynthesis, and pyrimidine can be alternatively recycled from uridine.
Trio
whole-exome sequencing identified
CAD
compound heterozygous mutations in a new male patient with global developmental delay (DD), refractory epilepsy, and anemia with anisopoikilocytosis. We further reviewed all published cases with
CAD
deficiency. Five patients were collected from two publications, including three males and two females, and all presented with DD, drug-resistant epilepsy, and anemia with anisopoikilocytosis. Four out of six patients (including the present case) were supplemented with uridine, which led to immediate cessation of seizures, resolved anemia with anisopoikilocytosis, and progress in global development. The other two patients, who were not treated with uridine, died at the ages of 4 and 5 years. In summary,
CAD
deficiency is probably a treatable neurometabolic disorder.
...
PMID:A Patient With CAD Deficiency Responsive to Uridine and Literature Review. 3211 25
