Ontology highlight
ABSTRACT:
SUBMITTER: Nitzahn M
PROVIDER: S-EPMC7738762 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Nitzahn Matthew M Lipshutz Gerald S GS
Molecular genetics and metabolism 20201010 3
The mammalian urea cycle (UC) is responsible for siphoning catabolic waste nitrogen into urea for excretion. Disruptions of the functions of any of the enzymes or transporters lead to elevated ammonia and neurological injury. Carbamoyl phosphate synthetase 1 (CPS1) is the first and rate-limiting UC enzyme responsible for the direct incorporation of ammonia into UC intermediates. Symptoms in CPS1 deficiency are typically the most severe of all UC disorders, and current clinical management is insu ...[more]